EDS Publications


EDS Books

Hypermobility, Fibromyalgia and Chronic Pain

Alan J Hakim (Herausgeber), Rosemary J. Keer (Herausgeber), Rodney Grahame (Herausgeber)

http://www.amazon.de/Hypermobility-Fibromyalgia-Chronic-Pain-Hakim-ebook/dp/B0069S29DS/ref=sr_1_6?ie=UTF8&qid=1407844716&sr=8-6&keywords=rodney+grahame

A Multidisciplinary Approach to Managing Ehlers-Danlos (Type III) – Hypermobility Syndrome: Working with the Chronic Complex Patient

Isobel Knight (Autor), Rodney Grahame (Vorwort)

http://www.amazon.de/Multi-Disciplinary-Approach-Managing-Ehlers-Danlos-Type-ebook/dp/B00C9M8KZO/ref=sr_1_1?ie=UTF8&qid=1406908795&sr=8-1&keywords=Ehlers+Danlos+Syndrome+type+3

Joint Hypermobility Handbook- A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome (Englisch)

von Brad T Tinkle (Autor)

http://www.amazon.de/Hypermobility-Handbook–Management-Ehlers-Danlos-Syndrome/dp/098257715X/

Progress in Heritable Soft Connective Tissue Diseases: 802 (Advances in Experimental Medicine and Biology)

Jaroslava (Ed.) Halper (Autor), Jaroslava Halper (Herausgeber)

http://www.amazon.de/Progress-Heritable-Connective-Tissue-Diseases-ebook/dp/B00HXAGLL2/ref=sr_1_fkmr0_1?ie=UTF8&qid=1438695377&sr=8-1-fkmr0&keywords=progress+in+heritable+tissue+disorders

Living life to the fullest with Ehlers-Danlos Syndrome

Kevin Muldowney

http://www.amazon.com/Living-Life-Fullest-Ehlers-Danlos-Syndrome/dp/1478758880/ref=sr_1_1?ie=UTF8&qid=1450279760&sr=8-1&keywords=living+life+to+the+fullest+with+ehlers+danlos+syndrome

Principles of Autonomic Medicine, written by Dr. David S. Goldstein.

http://www.dysautonomiainternational.org/page.php?ID=221

 

EDS General Information

Beighton P, Paepe AD, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. American journal of medical genetics. 1998 Apr 28;77(1):31-7.

De Paepe A, Malfait F. The Ehlers–Danlos syndrome, a disorder with many faces. Clinical genetics. 2012 Jul 1;82(1):1-1.

Levy HP. Ehlers-Danlos syndrome, hypermobility type.

Castori M, Camerota F, Celletti C, Danese C, Santilli V, Saraceni VM, Grammatico P. Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients. American Journal of Medical Genetics Part A. 2010 Mar 1;152(3):556-64.

Karaa A, Stoler JM. Ehlers Danlos syndrome: an unusual presentation you need to know about. Case reports in pediatrics. 2013 May 16;2013.

Rombaut L, Malfait F, De Wandele I, Taes Y, Thijs Y, De Paepe A, Calders P. Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers‐Danlos syndrome. Arthritis care & research. 2012 Oct 1;64(10):1584-92.

Shirley ED, DeMaio M, Bodurtha J. Ehlers-Danlos Syndrome in Orthopaedics Etiology, Diagnosis, and Treatment Implications. Sports Health: A Multidisciplinary Approach. 2012 Sep 1;4(5):394-403.

Castori M. Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN dermatology. 2012 Nov 22;2012.

Hamonet C, Brock I. Joint mobility and Ehlers-Danlos syndrome,(EDS) new data based on 232 cases. Journal of Arthritis. 2015 Apr 17;2015.

Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 6-22).

Tofts LJ, Elliott EJ, Munns C, Pacey V, Sillence DO. The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatr Rheumatol Online J. 2009 Jan 5;7:1.

Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 43-53).

Hamonet C, Frédy D, Lefèvre JH, Bourgeois-Gironde S, Zeitoun JD. Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print. Orphanet journal of rare diseases. 2016 Apr 22;11(1):1.

Joint Hypermobility and Joint Hypermobility Syndrome

Alan Pocinki

http://www.dynakids.org/Documents/hypermobility.pdf

YEN, Jui-Lung, et al. Clinical features of Ehlers-Danlos syndrome. Journal of the Formosan Medical Association, 2006, 105. Jg., Nr. 6, S. 475-480.

GAZIT, Yael; JACOB, Giris; GRAHAME, Rodney. Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder. Rambam Maimonides Medical Journal, 2016, 7. Jg., Nr. 4.

 

Mast Cell Activation Syndrome

Valent P, Horny HP, Triggiani M, Arock M. Clinical and laboratory parameters of mast cell activation as basis for the formulation of diagnostic criteria. International archives of allergy and immunology. 2011 May 16;156(2):119-27.

Afrin LB. The presentation, diagnosis and treatment of mast cell activation syndrome. Curr Allergy Clin Immunol. 2014 Sep;27:146-60.

Cardet JC, Castells MC, Hamilton MJ. Immunology and clinical manifestations of non-clonal mast cell activation syndrome. Current allergy and asthma reports. 2013 Feb 1;13(1):10-8.

Molderings GJ, Brettner S, Homann J, Afrin LB. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol. 2011 Mar 22;4(10).

Molderings GJ, Homann J, Brettner S, Raithel M, Frieling T. Systemische Mastzellaktivierungserkrankung: Ein praxisorientierter Leitfaden zu Diagnostik und Therapie. DMW-Deutsche Medizinische Wochenschrift. 2014 Jul;139(30):1523-38.

Afrin LB, Molderings GJ. A concise, practical guide to diagnostic assessment for mast cell activation disease. World J Hematol. 2014 Feb;3(1):1-7.

Lyons JJ, Sun G, Stone KD, Nelson C, Wisch L, O’Brien M, Jones N, Lindsley A, Komarow HD, Bai Y, Scott LM. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. The Journal of allergy and clinical immunology. 2014 May;133(5):1471.

Sido B, Dumoulin FL, Homann J, Hertfelder HJ, Bollmann M, Molderings GJ. Chirurgische Eingriffe an Patienten mit Mastzellüberaktivitätserkrankung. Der Chirurg. 2014 Apr 1;85(4):327-33.

Pöhlau D, Raithel M, Haenisch B, Harzer S, Molderings G. Neurologische und psychiatrische Symptome der systemischen MCAD. Springer Medizin2015 Sep; NeuroTransmitter

Emergency room protocol

Mastocytosis Society

http://www.tmsforacure.org/documents/ER_Protocol.pdf

Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008 Feb 1;63(2):226-32.

Molderings GJ, Kolck U, Scheurlen C, Brüss M, Frieling T, Raithel M, Homann J. Die systemische Mastzellerkrankung mit gastrointestinal betonter Symptomatik–eine Checkliste als Diagnoseinstrument. Dtsch Med Wochenschr. 2006 Sep;131:2095-100.

Brockow K, Metcalfe DD. Mastocytosis. Current opinion in allergy and clinical immunology. 2001 Oct 1;1(5):449-54.

Jennings S, Russell N, Jennings B, Slee V, Sterling L, Castells M, Valent P, Akin C. The Mastocytosis Society survey on mast cell disorders: patient experiences and perceptions. The Journal of Allergy and Clinical Immunology: In Practice. 2014 Feb 28;2(1):70-6.

Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM. Familial occurrence of systemic mast cell activation disease. PloS one. 2013 Sep 30;8(9):e76241.

Afrin LB. Mast cell activation syndrome as a significant comorbidity in sickle cell disease. The American journal of the medical sciences. 2014 Dec 31;348(6):460-4.

Alevizos M, Karagkouni A, Panagiotidou S, Vasiadi M, Theoharides TC. Stress triggers coronary mast cells leading to cardiac events. Annals of Allergy, Asthma & Immunology. 2014 Apr 30;112(4):309-16.

Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM. Familial occurrence of systemic mast cell activation disease. PloS one. 2013 Sep 30;8(9):e76241.

Vysniauskaite M, Hertfelder HJ, Oldenburg J, Dreßen P, Brettner S, Homann J, Molderings GJ. Determination of Plasma Heparin Level Improves Identification of Systemic Mast Cell Activation Disease. PloS one. 2015 Apr 24;10(4):e0124912.

Skaper SD, Facci L, Giusti P. Mast cells, glia and neuroinflammation: partners in crime?. Immunology. 2014 Mar 1;141(3):314-27.

Valent P. Mast cell activation syndromes: definition and classification. Allergy. 2013 Apr 1;68(4):417-24.

Afrin LB, Pöhlau D, Raithel M, Haenisch B, Dumoulin FL, Homann J, Mauer UM, Harzer S, Molderings GJ. Mast cell activation disease: An underappreciated cause of neurologic and psychiatric symptoms and diseases. Brain, behavior, and immunity. 2015 Nov 30;50:314-21.

Afrin LB, Khoruts A. Mast cell activation disease and microbiotic interactions. Clinical therapeutics. 2015 May 1;37(5):941-53.

Molderings GJ. The genetic basis of mast cell activation disease-looking through a glass darkly. Critical reviews in oncology/hematology. 2015 Feb 28;93(2):75-89.

Kolck UW, Haenisch B, Molderings GJ. Cardiovascular symptoms in patients with systemic mast cell activation disease. Translational Research. 2015 Dec 28.

Frieri M, Patel R, Celestin J. Mast cell activation syndrome: a review. Current allergy and asthma reports. 2013 Feb 1;13(1):27-32.

Afrin LB. Mast Cell Activation Disease and the modern Epidemic of Chronic Inflammatory Disease. Translational Research. 2016 Jan 18.

Ravi A, Butterfield J, Weiler CR. Mast cell activation syndrome: improved identification by combined determinations of serum tryptase and 24-hour urine 11β-prostaglandin2α. The Journal of Allergy and Clinical Immunology: In Practice. 2014 Dec 31;2(6):775-8.

Nelissen S, Vangansewinkel T, Geurts N, Geboes L, Lemmens E, Vidal PM, Lemmens S, Willems L, Boato F, Dooley D, Pehl D. Mast cells protect from post-traumatic spinal cord damage in mice by degrading inflammation-associated cytokines via mouse mast cell protease 4. Neurobiology of disease. 2014 Feb 28;62:260-72.

Afrin LB., Neilsen Myles K., Posival K. Never Bet Against Occam: Mast Cell Activation Disease and the Modern Epidemics of Chronic Illness and Medical Complexity. Sisters Media LLC; 1 edition (March 15, 2016)

PETRA, Anastasia I., et al. Spectrum of mast cell activation disorders. Expert review of clinical immunology, 2014, 10. Jg., Nr. 6, S. 729-739.

VYSNIAUSKAITE, Milda, et al. Determination of Plasma Heparin Level Improves Identification of Systemic Mast Cell Activation Disease. PloS one, 2015, 10. Jg., Nr. 4, S. e0124912.

AFRIN, Lawrence B., et al. Often seen, rarely recognized: mast cell activation disease–a guide to diagnosis and therapeutic options. Annals of medicine, 2016, 48. Jg., Nr. 3, S. 190-201.

CACABELOS, Ramón, et al. Histamine and Immune Biomarkers in CNS Disorders. Mediators of inflammation, 2016, 2016. Jg.

XU, Yunzhi; CHEN, Guangjie. Mast cell and autoimmune diseases. Mediators of inflammation, 2015, 2015. Jg.

HART, David A. Curbing Inflammation in Multiple Sclerosis and Endometriosis: Should Mast Cells Be Targeted?. International journal of inflammation, 2015, 2015. Jg.

SKAPER, Stephen D.; FACCI, Laura. Mast cell–glia axis in neuroinflammation and therapeutic potential of the anandamide congener palmitoylethanolamide. Phil. Trans. R. Soc. B, 2012, 367. Jg., Nr. 1607, S. 3312-3325.

WENG, Zuyi, et al. Quercetin is more effective than cromolyn in blocking human mast cell cytokine release and inhibits contact dermatitis and photosensitivity in humans. PLoS One, 2012, 7. Jg., Nr. 3, S. e33805.

BONAMICHI-SANTOS, Rafael; CASTELLS, Mariana. Mast Cell Activation Syndromes. Current Treatment Options in Allergy, S. 1-17.

 

Dysautonomia

General 

Dysautonomia diagnostic AAN Guidlines

https://www.aan.com/Guidelines/Home/GetGuidelineContent/39

Dysautonomia Handbook

http://www.ndrf.org/NDRFHandbook.htm

Mustafa HI, Fessel JP, Barwise J, Shannon JR, Raj SR, Diedrich A, Biaggioni I, Robertson D. DysautonomiaPerioperative Implications. The Journal of the American Society of Anesthesiologists. 2012 Jan 1;116(1):205-15.

Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the joint hypermobility syndrome. The American journal of medicine. 2003 Jul 31;115(1):33-40.

De Wandele I, Rombaut L, Leybaert L, Van de Borne P, De Backer T, Malfait F, De Paepe A, Calders P. Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome. InSeminars in arthritis and rheumatism 2014 Aug 31 (Vol. 44, No. 1, pp. 93-100). WB Saunders.

De Wandele I, Calders P, Peersman W, Rimbaut S, De Backer T, Malfait F, De Paepe A, Rombaut L. Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: A comparative study with two other EDS types, fibromyalgia, and healthy controls. InSeminars in arthritis and rheumatism 2014 Dec 31 (Vol. 44, No. 3, pp. 353-361). WB Saunders.

Jones PK, Gibbons CH. Autonomic function testing: an important diagnostic test for patients with syncope. Practical neurology. 2015 Oct 1;15(5):346-51.

ILLIGENS, Ben MW; GIBBONS, Christopher H. Sweat testing to evaluate autonomic function. Clinical Autonomic Research, 2009, 19. Jg., Nr. 2, S. 79-87.

POTS

Benarroch EE. Postural tachycardia syndrome: a heterogeneous and multifactorial disorder. InMayo Clinic Proceedings 2012 Dec 31 (Vol. 87, No. 12, pp. 1214-1225). Elsevier.

Mathias CJ, Low DA, Iodice V, Owens AP, Kirbis M, Grahame R. Postural tachycardia syndrome—current experience and concepts. Nature Reviews Neurology. 2012 Jan 1;8(1):22-34.

Park KJ, Singer W, Sletten DM, Low PA, Bharucha AE. Gastric emptying in postural tachycardia syndrome: a preliminary report. Clinical Autonomic Research. 2013 Aug 1;23(4):163-7.

Loavenbruck A, Iturrino J, Singer W, Sletten DM, Low PA, Zinsmeister AR, Bharucha AE. Disturbances of gastrointestinal transit and autonomic functions in postural orthostatic tachycardia syndrome. Neurogastroenterology & Motility. 2015 Jan 1;27(1):92-8.

Li H, Yu X, Liles C, Khan M, Vanderlinde-Wood M, Galloway A, Zillner C, Benbrook A, Reim S, Collier D, Hill MA. Autoimmune basis for postural tachycardia syndrome. Journal of the American Heart Association. 2014 Jan 3;3(1):e000755.

Nwazue VC, Raj SR. Confounders of vasovagal syncope: postural tachycardia syndrome. Cardiology clinics. 2013 Feb 28;31(1):101-9.

Shibao C, Arzubiaga C, Roberts LJ, Raj S, Black B, Harris P, Biaggioni I. Hyperadrenergic postural tachycardia syndrome in mast cell activation disorders. Hypertension. 2005 Mar 1;45(3):385-90.

Sheldon RS, Grubb BP, Olshansky B, Shen WK, Calkins H, Brignole M, Raj SR, Krahn AD, Morillo CA, Stewart JM, Sutton R. 2015 Heart Rhythm Society expert consensus statement on the diagnosis and treatment of postural tachycardia syndrome, inappropriate sinus tachycardia, and vasovagal syncope. Heart Rhythm. 2015 Jun 1;12(6):e41-63.

Mallien J, Isenmann S, Mrazek A, Haensch CA. Sleep disturbances and autonomic dysfunction in patients with postural orthostatic tachycardia syndrome. Frontiers in neurology. 2014;5.

Huang H, Deb A, Culbertson C, Morgenshtern K, DePold Hohler A. Dermatological Manifestations of Postural Tachycardia Syndrome Are Common and Diverse. Journal of Clinical Neurology. 2016 Jan 1;12(1):75-8.

Grigoriou E, Boris JR, Dormans JP. Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. Clinical Orthopaedics and Related Research®. 2015 Feb 1;473(2):722-8.

Blitshteyn S. Autoimmune markers and autoimmune disorders in patients with postural tachycardia syndrome (POTS). Lupus. 2015 Nov 1;24(13):1364-9.

Garland EM, Celedonio JE, Raj SR. Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance. Current neurology and neuroscience reports. 2015 Sep 1;15(9):1-1.

Shin KJ, Kim SE, Park KM, Park J, Ha SY, Kwon OY. Cerebral hemodynamics in orthostatic intolerance with normal head‐up tilt test. Acta Neurologica Scandinavica. 2015 Oct 1.

Wang LB, Culbertson CJ, Deb A, Morgenshtern K, Huang H, Hohler AD. Gastrointestinal dysfunction in postural tachycardia syndrome. Journal of the neurological sciences. 2015 Dec 15;359(1):193-6.

Goodkin MB, Bellew LJ. Osteopathic Manipulative Treatment for Postural Orthostatic Tachycardia Syndrome. The Journal of the American Osteopathic Association. 2014 Nov 1;114(11):874-7.

Kanjwal K, Karabin B, Kanjwal Y, Grubb BP. Autonomic dysfunction presenting as postural tachycardia syndrome following traumatic brain injury. Cardiol J. 2010 Sep 1;17(5):482-7.

Miglis MG, Muppidi S, Feakins C, Fong L, Prieto T, Jaradeh S. Sleep disorders in patients with postural tachycardia syndrome. Clinical Autonomic Research. 2016 Feb 1;26(1):67-73.

Kanjwal K, Karabin B, Kanjwal Y, Saeed B, Grubb BP. Autonomic dysfunction presenting as orthostatic intolerance in patients suffering from mitochondrial cytopathy. Clinical cardiology. 2010 Oct 1;33(10):626-9.

Kaufman MR, Chang‐Kit L, Raj SR, Black BK, Milam DF, Reynolds WS, Biaggioni I, Robertson D, Dmochowski RR. Overactive bladder and autonomic dysfunction: Lower urinary tract symptoms in females with postural tachycardia syndrome. Neurourology and urodynamics. 2016 Feb 1.

OH

Low PA, Tomalia VA. Orthostatic hypotension: mechanisms, causes, management. Journal of Clinical Neurology. 2015 Jul 1;11(3):220-6.

Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Droxidopa in neurogenic orthostatic hypotension. Expert review of cardiovascular therapy. 2015 Aug 3;13(8):875-91.

Vijayan J, Sharma VK. Neurogenic orthostatic hypotension–management update and role of droxidopa. Therapeutics and clinical risk management. 2015;8:915.

Figueroa JJ, Basford JR, Low PA. Preventing and treating orthostatic hypotension: as easy as A, B, C. Cleveland Clinic journal of medicine. 2010 May;77(5):298.

Halliwill JR, Sieck DC, Romero SA, Buck TM, Ely MR. Blood pressure regulation X: what happens when the muscle pump is lost? Post-exercise hypotension and syncope. European journal of applied physiology. 2014 Mar 1;114(3):561-78.

Ricci F, De Caterina R, Fedorowski A. Orthostatic hypotension: epidemiology, prognosis, and treatment. Journal of the American College of Cardiology. 2015 Aug 18;66(7):848-60.

saacson SH. Managed care approach to the treatment of neurogenic orthostatic hypotension. The American journal of managed care. 2015 Oct;21(13 Suppl):s258-68.

Loavenbruck A, Sandroni P. Neurogenic orthostatic hypotension: roles of norepinephrine deficiency in its causes, its treatment, and future research directions. Current medical research and opinion. 2015 Nov 2;31(11):2095-104.

Vijayan J, Sharma VK. Neurogenic orthostatic hypotension–management update and role of droxidopa. Therapeutics and clinical risk management. 2015;8:915.

KAUFMANN, Horacio; NORCLIFFE-KAUFMANN, Lucy; PALMA, Jose-Alberto. Droxidopa in neurogenic orthostatic hypotension. Expert review of cardiovascular therapy, 2015, 13. Jg., Nr. 8, S. 875-891.

Vagus Nerve Stimulation

Headache. 2016 Jan;56(1):71-8. doi: 10.1111/head.12647. Epub 2015 Sep 14.

Vagus Nerve and Vagus Nerve Stimulation, a Comprehensive Review: Part I.

Yuan H, Silberstein SD

BUSCH, Volker, et al. The effect of transcutaneous vagus nerve stimulation on pain perception–an experimental study. Brain stimulation, 2013, 6. Jg., Nr. 2, S. 202-209.

KIRCHNER, Annette, et al. Vagus nerve stimulation suppresses pain but has limited effects on neurogenic inflammation in humans. European journal of pain, 2006, 10. Jg., Nr. 5, S. 449-449.

DE COUCK, Marijke; NIJS, Jo; GIDRON, Yori. You may need a nerve to treat pain: the neurobiological rationale for vagal nerve activation in pain management. The Clinical journal of pain, 2014, 30. Jg., Nr. 12, S. 1099-1105.

 

Neurological issues 

General

Castori M, Voermans NC. Neurological manifestations of Ehlers-Danlos syndrome (s): A review. Iranian journal of neurology. 2014 Oct 6;13(4):190.

VERROTTI, Alberto, et al. Ehlers–Danlos syndrome: A cause of epilepsy and periventricular heterotopia. Seizure, 2014, 23. Jg., Nr. 10, S. 819-824.

Neuropathy

Voermans NC, Knoop H, van Engelen BG. High frequency of neuropathic pain in Ehlers-Danlos syndrome: an association with axonal polyneuropathy and compression neuropathy?. Journal of pain and symptom management. 2011 May 31;41(5):e4-6.

Small fiber Neuropathie

Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, Broglio L, Granieri E, Lauria G. The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. Brain. 2008 Jul 1;131(7):1912-25.

Brouwer BA, de Greef BT, Hoeijmakers JG, Geerts M, van Kleef M, Merkies IS, Faber CG. Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects. Drugs & aging. 2015 Aug 1;32(8):611-21.

Themistocleous AC, Ramirez JD, Serra J, Bennett DL. The clinical approach to small fibre neuropathy and painful channelopathy. Practical neurology. 2014 Dec 1;14(6):368-79.

Ebadi H, Siddiqui H, Ebadi S, Ngo M, Breiner A, Bril V. Peripheral Nerve Ultrasound in Small Fiber Polyneuropathy. Ultrasound in medicine & biology. 2015 Nov 30;41(11):2820-6.

Lefaucheur JP, Wahab A, Planté-Bordeneuve V, Sène D, Ménard-Lefaucheur I, Rouie D, Tebbal D, Salhi H, Créange A, Zouari H, Tin SN. Diagnosis of small fiber neuropathy: a comparative study of five neurophysiological tests. Neurophysiologie Clinique/Clinical Neurophysiology. 2015 Dec 31;45(6):445-55.

Mainka T, Maier C, Enax-Krumova EK. Neuropathic pain assessment: update on laboratory diagnostic tools. Current Opinion in Anesthesiology. 2015 Oct 1;28(5):537-45.

Cazzato D, Castori M, Lombardi R, Caravello F, Dalla Bella E, Petrucci A, Grammatico P, Dordoni C, Colombi M, Lauria G. Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. Neurology. 2016 Jul 12;87(2):155-9.

CHIANG, Ming-Chang, et al. Progress in the treatment of small fiber peripheral neuropathy. Expert review of neurotherapeutics, 2015, 15. Jg., Nr. 3, S. 305-313.

CARDET, Juan-Carlos; CASTELLS, Mariana C.; HAMILTON, Matthew J. Immunology and clinical manifestations of non-clonal mast cell activation syndrome. Current allergy and asthma reports, 2013, 13. Jg., Nr. 1, S. 10-18.

 

EDS/ Overlap neuromuscular diseases

Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC. The neuromuscular differential diagnosis of joint hypermobility. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 23-42).

Gerrits KH, Voermans NC, de Haan A, van Engelen BG. Neuromuscular properties of the thigh muscles in patients with Ehlers–Danlos syndrome. Muscle & nerve. 2013 Jan 1;47(1):96-104.

Voermans NC. Neuromuscular features of Ehlers-Danlos syndrome and Marfan syndrome, expanding the phenotype of inherited connective tissue disorders and investigating the role of the extracellular matrix in muscle. [Sl: sn]; 2011.

Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Neuromuscular involvement in various types of Ehlers–Danlos syndrome. Annals of neurology. 2009 Jun 1;65(6):687-97.

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton‐Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG. Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes. American Journal of Medical Genetics Part A. 2005 Jan 30;132(3):296-301.

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Human molecular genetics. 2013 Dec 11:ddt627.

CHEN, Peiwen, et al. Collagen VI regulates peripheral nerve myelination and function. The FASEB Journal, 2014, 28. Jg., Nr. 3, S. 1145-1156.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera‐Pruszczyk A, Hausmanowa‐Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, Jędrzejowska M. A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle & Nerve. 2016 Jun 1.

 

Differential diagnosis

Murphy-Ryan M, Psychogios A, Lindor NM. Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis. Genetics in Medicine. 2010 Jun 1;12(6):344-54.

 

CCI / Chiari / TC

Loukas M, Shayota BJ, Oelhafen K, Miller JH, Chern JJ, Tubbs RS, Oakes WJ. Associated disorders of Chiari Type I malformations: a review. Neurosurgical focus. 2011 Sep;31(3):E3.

Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.

Castori M, Morlino S, Ghibellini G, Celletti C, Camerota F, Grammatico P. Connective tissue, Ehlers–Danlos syndrome (s), and head and cervical pain. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 84-96).

Mathers KS, Schneider M, Timko M. Occult hypermobility of the craniocervical junction: a case report and review. journal of orthopaedic & sports physical therapy. 2011 Jun;41(6):444-57.

Goel A. Is atlantoaxial instability the cause of Chiari malformation? Outcome analysis of 65 patients treated by atlantoaxial fixation. Journal of Neurosurgery: Spine. 2015 Feb;22(2):116-27.

Felbaum D, Spitz S, Sandhu FA. Correction of clivoaxial angle deformity in the setting of suboccipital craniectomy: technical note. Journal of Neurosurgery: Spine. 2015 Jul;23(1):8-15.

Brockmeyer DL. The complex Chiari: issues and management strategies. Neurological Sciences. 2011 Dec 1;32(3):345-7.

Henderson FC, Geddes JF, Vaccaro AR, Woodard E, Berry KJ, Benzel EC. Stretch-associated injury in cervical spondylotic myelopathy: new concept and review. Neurosurgery. 2005 May 1;56(5):1101-13.

Co-Morbidities that Complicate the Treatment and Outcomes of Chiari Malformation

Ulrich Batzdorf

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Proceedings of CSF Colloquium 2013: Basilar Impression & Hypermobility at the Craniocervical Junction

By Ulrich Batzdorf et al.

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Milhorat TH, Bolognese PA, Nishikawa M, Francomano CA, McDonnell NB, Roonprapunt C, Kula RW. Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale. Surgical neurology. 2009 Jul 31;72(1):20-35.

Krishna V, Sammartino F, Yee P, Mikulis D, Walker M, Elias G, Hodaie M. Diffusion tensor imaging assessment of microstructural brainstem integrity in Chiari malformation Type I. Journal of neurosurgery. 2016 Feb:1-8.

Henderson FC. Cranio-cervical Instability in Patients with Hypermobility Connective Disorders. Journal of Spine. 2016 Apr 18;2016.

 

Pharmacogenetic

Bounmythavong MS, Weismann MM, Marienau MS. Implications of pharmacogenomics for anesthesia providers. AANA journal. 2010 Oct;78(5):393.

Genetics

Genetik General

Van Damme T, Syx D, Coucke P, Symoens S, De Paepe A, Malfait F. Genetics of the Ehlers–Danlos syndrome: more than collagen disorders. Expert Opinion on Orphan Drugs. 2015 Apr 3;3(4):379-92.

Vanakker O, Callewaert B, Malfait F, Coucke P. The genetics of soft connective tissue disorders. Annual review of genomics and human genetics. 2015 Aug 24;16:229-55.

Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F. Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21. 1 in an Extended Belgian Family. Disease markers. 2015 Oct 4;2015.

Zheng W, Rao S. Knowledge-based analysis of genetic associations of rheumatoid arthritis to inform studies searching for pleiotropic genes: a literature review and network analysis. Arthritis research & therapy. 2015 Dec 1;17(1):1-9.

Yang HC, Liang YJ, Chung CM, Chen JW, Pan WH. Genome-wide gene-based association study. InBMC proceedings 2009 Dec 15 (Vol. 3, No. 7, p. 1). BioMed Central.

Mackenroth L, Fischer‐Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A. 2016 Jan 1.

Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H. Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. BMC musculoskeletal disorders. 2016 Feb 16;17(1):1.

Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Human genetics. 2016 May 1;135(5):525-40.

Connizzo BK, Han L, Birk DE, Soslowsky LJ. Collagen V-heterozygous and-null supraspinatus tendons exhibit altered dynamic mechanical behaviour at multiple hierarchical scales. Interface focus. 2016 Feb 6;6(1):20150043.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in Medicine. 2016 Mar 24.

Bin BH, Fukada T, Hosaka T, Yamasaki S, Ohashi W, Hojyo S, Miyai T, Nishida K, Yokoyama S, Hirano T. Biochemical characterization of human ZIP13 protein a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic ehlers-danlos syndrome. Journal of Biological Chemistry. 2011 Nov 18;286(46):40255-65.

CHIARELLI, Nicola, et al. Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. PLoS One, 2016, 11. Jg., Nr. 8, S. e0161347.

LYONS, Jonathan J., et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature Genetics, 2016.

TNXB Genetics

Petersen JW, Douglas JY. Tenascin-X, collagen, and Ehlers–Danlos syndrome: Tenascin-X gene defects can protect against adverse cardiovascular events. Medical hypotheses. 2013 Sep 30;81(3):443-7.

Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers–Danlos syndrome caused by tenascin-X deficiency. New England Journal of Medicine. 2001 Oct 18;345(16):1167-75.

Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 2013 Jan 2;98(2):E379-87.

Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. The American Journal of Human Genetics. 2003 Jul 31;73(1):214-7.

Zweers MC, Dean WB, Van Kuppevelt TH, Bristow J, Schalkwijk J. Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin‐X mutations. Clinical genetics. 2005 Apr 1;67(4):330-4.

Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P. Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscular Disorders. 2013 Aug 31;23(8):664-9.

Voermans NC, Jenniskens GJ, Hamel BC, Schalkwijk J, Guicheney P, Van Engelen BG. Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies. American Journal of Medical Genetics Part A. 2007 Sep 15;143(18):2215-9.

Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 2013 Jan 2;98(2):E379-87.

Morissette R, Merke DP, McDonnell NB. Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome. European journal of medical genetics. 2014 Feb 28;57(2):95-102.

Minamitani T, Ariga H, Matsumoto KI. Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Experimental cell research. 2004 Jul 1;297(1):49-60.

Minamitani T, Ariga H, Matsumoto KI. Adhesive defect in extracellular matrix tenascin-X-null fibroblasts: a possible mechanism of tumor invasion. Biological and Pharmaceutical Bulletin. 2002;25(11):1472-5.

Valcourt U, Alcaraz LB, Exposito JY, Lethias C, Bartholin L. Tenascin-X: beyond the architectural function. Cell adhesion & migration. 2015 Jan 2;9(1-2):154-65.

Chiquet-Ehrismann R, Tucker RP. Tenascins and the importance of adhesion modulation. Cold Spring Harbor perspectives in biology. 2011 May 1;3(5):a004960.

Yuan Y, Nymoen DA, Stavnes HT, Rossnes AK, Bjørang O, Wu C, Nesland JM, Davidson B. Tenascin-X is a novel diagnostic marker of malignant mesothelioma. The American journal of surgical pathology. 2009 Nov;33(11):1673.

Chen W, Kim MS, Shanbhag S, Arai A, VanRyzin C, McDonnell NB, Merke DP. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. American Journal of Medical Genetics Part A. 2009 Dec 1;149(12):2803-8.

Zhuang S, Linhananta A, Li H. Phenotypic effects of Ehlers–Danlos syndrome‐associated mutation on the FnIII domain of tenascin‐X. Protein Science. 2010 Nov 1;19(11):2231-9.

Peeters AC, Kucharekova M, Timmermans J, Van Den Berkmortel FW, Boers GH, Novakova IR, Egging D, Heijer MD, Schalkwijk J. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.

Fujie S, Maita H, Ariga H, Matsumoto KI. Tenascin-X induces cell detachment through p38 mitogen-activated protein kinase activation. Biological and Pharmaceutical Bulletin. 2009;32(10):1795-9.

Alcaraz LB, Exposito JY, Chuvin N, Pommier RM, Cluzel C, Martel S, Sentis S, Bartholin L, Lethias C, Valcourt U. Tenascin-X promotes epithelial-to-mesenchymal transition by activating latent TGF-β. The Journal of cell biology. 2014 May 12;205(3):409-28.

Kamatani Y, Matsuda K, Ohishi T, Ohtsubo S, Yamazaki K, Iida A, Hosono N, Kubo M, Yumura W, Nitta K, Katagiri T. Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population. Journal of human genetics. 2008 Jan 1;53(1):64-73.

Ishitsuka T, Ikuta T, Ariga H, Matsumoto KI. Serum tenascin-X strongly binds to vascular endothelial growth factor. Biological and Pharmaceutical Bulletin. 2009;32(6):1004-11.

Lévy P, Ripoche H, Laurendeau I, Lazar V, Ortonne N, Parfait B, Leroy K, Wechsler J, Salmon I, Wolkenstein P, Dessen P. Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1. Clinical cancer research. 2007 Jan 15;13(2):398-407.

Jollymore A, Lethias C, Peng Q, Cao Y, Li H. Nanomechanical properties of tenascin-X revealed by single-molecule force spectroscopy. Journal of molecular biology. 2009 Jan 30;385(4):1277-86.

Veit G, Hansen U, Keene DR, Bruckner P, Chiquet-Ehrismann R, Chiquet M, Koch M. Collagen XII interacts with avian tenascin-X through its NC3 domain. Journal of Biological Chemistry. 2006 Sep 15;281(37):27461-70.

Voermans NC, Altenburg TM, Hamel BC, de Haan A, Van Engelen BG. Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients. Neuromuscular Disorders. 2007 Aug 31;17(8):597-602.

Minamitani T, Ariga H, Matsumoto KI. Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Experimental cell research. 2004 Jul 1;297(1):49-60.

Zweers MC, Peeters AC, Graafsma S, Kranendonk S, van der Vliet JA, den Heijer M, Schalkwijk J. Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. Circulation. 2006 Apr 4;113(13):1702-7.

Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP. Ehlers‐Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Human mutation. 2016 Jun 1.

Yamada K, Watanabe A, Takeshita H, Matsumoto KI. A method for quantification of serum tenascin-X by nano-LC/MS/MS. Clinica Chimica Acta. 2016 Aug 1;459:94-100.

Fukamauchi F, Wang YJ, Mataga N, Kusakabe M. Paradoxical behavioral response to apomorphine in tenascin-gene knockout mouse. European journal of pharmacology. 1997 Oct 29;338(1):7-10.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in Medicine. 2016 Mar 24.

Voermans NC, Verrijp K, Eshuis L, Balemans MC, Egging D, Sterrenburg E, van Rooij IA, van der Laak JA, Schalkwijk J, M van der Maarel S, Lammens M. Mild muscular features in tenascin-X knockout mice, a model of Ehlers–Danlos syndrome. Connective tissue research. 2011 Oct 1;52(5):422-32.

DEMIRDAS, Serwet, et al. Recognizing the tenascin‐X deficient type of Ehlers‐Danlos syndrome: a cross‐sectional study in 17 patients. Clinical Genetics, 2016.

CHIQUET‐EHRISMANN, Ruth; CHIQUET, Matthias. Tenascins: regulation and putative functions during pathological stress. The Journal of pathology, 2003, 200. Jg., Nr. 4, S. 488-499.

OTTENHEIJM, Coen AC, et al. Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome. Journal of Applied Physiology, 2012, 112. Jg., Nr. 7, S. 1157-1165.

DAS, Amitava, et al. The Human Skeletal Muscle Transcriptome in Response to Oral Shilajit Supplementation. Journal of Medicinal Food, 2016, 19. Jg., Nr. 7, S. 701-709.

DEMIRDAS, Serwet, et al. Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients. Clinical Genetics, 2016.

FUKAMAUCHI, Fumihiko, et al. Abnormal behavior and neurotransmissions of tenascin gene knockout mouse. Biochemical and biophysical research communications, 1996, 221. Jg., Nr. 1, S. 151-156.

Psychopathological Manifestations

Sinibaldi L, Ursini G, Castori M. Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 97-106).

Social problems

Eurodis Care Study

Ehlers-Danlos Syndrome

Sections of this chapter were written with the collaboration of the Association Française
des Syndromes d’Ehlers Danlos and Associazione Italiana per la Sindrome di Ehlers-Danlos (A.I.S.E.D.).

http://www.eurordis.org/IMG/pdf/voice_12000_patients/DIS_Ehlers_Danlos_Syndrome.pdf

Berglund B, Anne-Cathrine M, Randers I. Dignity not fully upheld when seeking health care: Experiences expressed by individuals suffering from Ehlers–Danlos syndrome. Disability and rehabilitation. 2010 Jan 1;32(1):1-7.

Berglund B, Pettersson C, Pigg M, Kristiansson P. Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study. BMC musculoskeletal disorders. 2015 Apr 15;16(1):1.

Terry RH, Palmer ST, Rimes KA, Clark CJ, Simmonds JV, Horwood JP. Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care. Family practice. 2015 Apr 24:cmv026.

Osteoporosis

Coelho PC, Santos RA, Gomes JA. Osteoporosis and Ehlers-Danlos syndrome. Annals of the rheumatic diseases. 1994 Mar;53(3):212.

Theodorou SJ, Theodorou DJ, Kakitsubata Y, Adams JE. Low bone mass in Ehlers-Danlos syndrome. Internal Medicine. 2012;51(22):3225-6.

Mazziotti G, Dordoni C, Doga M, Galderisi F, Venturini M, Calzavara-Pinton P, Maroldi R, Giustina A, Colombi M. High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome. Bone. 2016 Mar 31;84:88-92.

Gastrointestinal Problems

Levy HP, Mayoral W, Collier K, Tio TL, Francomano CA. Gastroesophageal reflux and irritable bowel syndrome in classical and hypermobile Ehlers Danlos syndrome (EDS). InAmerican Journal of Human Genetics 1999 Oct 1 (Vol. 65, No. 4, pp. A69-A69). 5720 SOUTH WOODLAWN AVE, CHICAGO, IL 60637-1603 USA: UNIV CHICAGO PRESS.

Fikree A, Grahame R, Aktar R, Farmer AD, Hakim AJ, Morris JK, Knowles CH, Aziz Q. A prospective evaluation of undiagnosed joint hypermobility syndrome in patients with gastrointestinal symptoms. Clinical Gastroenterology and Hepatology. 2014 Oct 31;12(10):1680-7.

Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P. Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 54-75).

Fikree A, Aktar R, Grahame R, Hakim AJ, Morris JK, Knowles CH, Aziz Q. Functional gastrointestinal disorders are associated with the joint hypermobility syndrome in secondary care: a case–control study. Neurogastroenterology & Motility. 2015 Apr 1;27(4):569-79.

Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, Camilleri M. Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic. Neurogastroenterology & Motility. 2015 Nov 1;27(11):1657-66.

FIKREE, A., et al. The association between Ehlers‐Danlos syndrome—hypermobility type and gastrointestinal symptoms in university students: a cross‐sectional study. Neurogastroenterology & Motility, 2016.

EoE

ABONIA, J. Pablo, et al. High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. Journal of Allergy and Clinical Immunology, 2013, 132. Jg., Nr. 2, S. 378-386.

Heart Manifestation 

McDonnell NB, Gorman BL, Mandel KW, Schurman SH, Assanah‐Carroll A, Mayer SA, Najjar SS, Francomano CA. Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes. American Journal of Medical Genetics Part A. 2006 Jan 15;140(2):129-36.

Wenstrup RJ, Meyer RA, Lyle JS, Hoechstetter L, Rose PS, Levy HP, Francomano CA. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genetics in Medicine. 2002 May 1;4(3):112-7.

Anesthesia / surgery

Wiesmann T, Castori M, Malfait F, Wulf H. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome (s). Orphanet journal of rare diseases. 2014 Jul 23;9(1):1.

Johnston BA, Occhipinti KE, Baluch A, Kaye AD. Ehlers-Danlos syndrome: complications and solutions concerning anesthetic management. MIDDLE EAST JOURNAL OF ANESTHESIOLOGY. 2006 Oct;18(6):1171.

Fogel S. Surgical Failures: Is It the Surgeon or the Patient? The All too Often Missed Diagnosis of Ehlers-Danlos Syndrome. The American Surgeon. 2013 Jun 1;79(6):608-13.

Rombaut L, Malfait F, De Wandele I, Cools A, Thijs Y, De Paepe A, Calders P. Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. Archives of physical medicine and rehabilitation. 2011 Jul 31;92(7):1106-12.

Veenhuizen M, Cornelissens L, Blackmon M. Nursing care for patients with the Ehlers-Danlos and other hypermobility syndromes. Journal of Nursing Education and Practice. 2014 Apr 1;4(4):52.

Anderson LK. CE: Nursing Management of Patients with Ehlers–Danlos Syndrome. AJN The American Journal of Nursing. 2015 Jul 1;115(7):38-46.

Multiple sclerosis

Vilisar J, Harikrishnan S, Suri M, Constantinescu CS. Ehlers–Danlos syndrome and multiple sclerosis: a possible association. Multiple Sclerosis. 2008 Jan 21.

OZLECE, Hatice Kose; ILIK, Faik; HUSEYINOGLU, Nergiz. Coexistence of Ehlers-Danlos syndrome and multiple sclerosis. Iranian journal of neurology, 2015, 14. Jg., Nr. 2, S. 116-117.

Chronic pain and fatigue 

A clinical case definition and guidelines for medical practitioners

An overview of the canadian consensus document

http://sacfs.asn.au/download/consensus_overview_me_cfs.pdf

Loebel M, Grabowski P, Heidecke H, Bauer S, Hanitsch LG, Wittke K, Meisel C, Reinke P, Volk HD, Fluge Ø, Mella O. Antibodies to β adrenergic and muscarinic cholinergic receptors in patients with Chronic Fatigue Syndrome. Brain, Behavior, and Immunity. 2016 Feb 29;52:32-9.

Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. The Journal of pediatrics. 1999 Oct 31;135(4):494-9.

Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Management of pain and fatigue in the joint hypermobility syndrome (aka Ehlers–Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach. American Journal of Medical Genetics Part A. 2012 Aug 1;158(8):2055-70.

Celletti C, Galli M, Cimolin V, Castori M, Albertini G, Camerota F. Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. Research in developmental disabilities. 2012 Dec 31;33(6):1914-8.

Castori M, Morlino S, Celletti C, Ghibellini G, Bruschini M, Grammatico P, Blundo C, Camerota F. Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type. American Journal of Medical Genetics Part A. 2013 Dec 1;161(12):2989-3004.

Scheper MC, de Vries JE, Verbunt J, Engelbert RH. Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge. Journal of pain research. 2015;8:591.

Arthur K, Caldwell K, Forehand S, Davis K. Pain control methods in use and perceived effectiveness by patients with Ehlers–Danlos syndrome: a descriptive study. Disability and rehabilitation. 2016 May 21;38(11):1063-74.

Di Stefano G, Celletti C, Baron R, Castori M, Di Franco M, La Cesa S, Leone C, Pepe A, Cruccu G, Truini A, Camerota F. Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type. European Journal of Pain. 2016 Feb 1.

De Wandele I, Rombaut L, De Backer T, Peersman W, Da Silva H, De Mits S, De Paepe A, Calders P, Malfait F. Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. Rheumatology. 2016 Apr 18:kew032.

Chopra P., Low Dose Naltrexone and chronic pain

http://www.ldnresearchtrust.org/content/low-dose-naltrexone-and-chronic-pain-pradeep-chopra-md

The intractable pain patients guide to pain free hours

http://www.foresttennant.com/pdfs/Intractable-pain-guide-to-pain-free-hours.pdf

TENNANT, Forest; HERMANN, Laura. Normalization of serum cortisol concentration with opioid treatment of severe chronic pain. Pain Medicine, 2002, 3. Jg., Nr. 2, S. 132-134.

VADIVELU, Nalini, et al. Role of ketamine for analgesia in adults and children. Journal of Anaesthesiology, Clinical Pharmacology, 2016, 32. Jg., Nr. 3, S. 298.

CASTORI, Marco. Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives. Expert Opinion on Orphan Drugs, 2016, 4. Jg., Nr. 11, S. 1145-1158.

ARFÈ, Andrea, et al. Non-steroidal anti-inflammatory drugs and risk of heart failure in four European countries: nested case-control study. bmj, 2016, 354. Jg., S. i4857.

JANAKIRAMAN, Raguraman; HAMILTON, Laura; WAN, Aston. Unravelling the efficacy of antidepressants as analgesics. Australian family physician, 2016, 45. Jg., Nr. 3, S. 113-117.

YOUNGER, Jarred; PARKITNY, Luke; MCLAIN, David. The use of low-dose naltrexone (LDN) as a novel anti-inflammatory treatment for chronic pain. Clinical rheumatology, 2014, 33. Jg., Nr. 4, S. 451-459.

GHAI, Babita, et al. Off-Label, Low-Dose Naltrexone for Refractory Chronic Low Back Pain. Pain Medicine, 2014, 15. Jg., Nr. 5, S. 883-884.

ORBAI, Ana-Maria; MEYERHOFF, John O. The effectiveness of tricyclic antidepressants on lumbar spinal stenosis. Bulletin of the NYU hospital for joint diseases, 2010, 68. Jg., Nr. 1, S. 22.

 

VEDS

Tae HJ, Marshall S, Zhang J, Wang M, Briest W, Talan MI. Chronic treatment with a broad-spectrum metalloproteinase inhibitor, doxycycline, prevents the development of spontaneous aortic lesions in a mouse model of vascular Ehlers-Danlos syndrome. Journal of Pharmacology and Experimental Therapeutics. 2012 Oct 1;343(1):246-51.

Briest W, Cooper TK, Tae HJ, Krawczyk M, McDonnell NB, Talan MI. Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome. Journal of Pharmacology and Experimental Therapeutics. 2011 Jun 1;337(3):621-7.

BUSCH, Albert, et al. Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. Orphanet Journal of Rare Diseases, 2016, 11. Jg., Nr. 1, S. 1.

Bleeding

Lindsay H, Lee-Kim YJ, Srivaths LV. Perioperative Hemostatic Management in Ehlers-Danlos Syndrome: A Report of 2 Cases and Literature Review. Journal of pediatric hematology/oncology. 2015 Sep 2.

Paepe AD, Malfait F. Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders. British journal of haematology. 2004 Dec 1;127(5):491-500.

Therapy

Physio

Rombaut L, Deane J, Simmonds J, De Wandele I, De Paepe A, Malfait F, Calders P. Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type among flemish physiotherapists. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 76-83).

Russek LN, LaShomb EA, Ware AM, Wesner SM, Westcott V. United States Physical Therapists’ Knowledge About Joint Hypermobility Syndrome Compared with Fibromyalgia and Rheumatoid Arthritis. Physiotherapy Research International. 2014 Dec 1.

Keer R, Simmonds J. Joint protection and physical rehabilitation of the adult with hypermobility syndrome. Current Opinion in Rheumatology. 2011 Mar 1;23(2):131-6.

Simmonds JV, Keer RJ. Hypermobility and the hypermobility syndrome. Manual therapy. 2007 Nov 30;12(4):298-309.

Simmonds JV, Keer RJ. Hypermobility and the hypermobility syndrome, part 2: assessment and management of hypermobility syndrome: illustrated via case studies. Manual therapy. 2008 Apr 30;13(2):e1-1.

Ferrell WR, Tennant N, Sturrock RD, Ashton L, Creed G, Brydson G, Rafferty D. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis & Rheumatism. 2004 Oct 1;50(10):3323-8.

Prolotherapy 

Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy
Ross A. Hauser, MD & Hilary J. Phillips

http://www.prolotherapy.com/Hauser_Hypermobility_.pdf

 

EDS and Fibromyalgia

Hermanns-Lê T, PIERARD G. Skin ultrastructural similarities between fibromyalgia and Ehlers-Danlos syndrome hypermobility type. Journal of osteoarthritis. 2015 Dec 22;1(1).

 

Misdiagnoses

Douglas Y. The real malady of Marcel Proust and what it reveals about diagnostic errors in medicine. Medical hypotheses. 2016 May 31;90:14-8.

 

CSF leaks

SCHIEVINK, Wouter I., et al. Digital subtraction myelography for the identification of spontaneous spinal CSF-venous fistulas. Journal of Neurosurgery: Spine, 2016, 24. Jg., Nr. 6, S. 960-964.

SCHIEVINK, Wouter I.; DELINE, Constance R. Headache secondary to intracranial hypotension. Current pain and headache reports, 2014, 18. Jg., Nr. 11, S. 1-9.

SCHIEVINK, Wouter I.; GORDON, Ora Karp; TOURJE, James. Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. Neurosurgery, 2004, 54. Jg., Nr. 1, S. 65-71.

Hernia / Prolaps

AL-RAWI, Z. S.; AL-DUBAIKEL, K. Y.; AL-SIKAFI, H. Joint mobility in people with hiatus hernia. Rheumatology, 2004, 43. Jg., Nr. 5, S. 574-576.

LAMMERS, Karin, et al. Pelvic organ prolapse and collagen-associated disorders. International urogynecology journal, 2012, 23. Jg., Nr. 3, S. 313-319.

 

Respiratory tract

MORGAN, A. W., et al. Asthma and airways collapse in two heritable disorders of connective tissue. Annals of the rheumatic diseases, 2007, 66. Jg., Nr. 10, S. 1369-1373.

GAISL, Thomas, et al. Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. Thorax, 2017, S. thoraxjnl-2016-209560.

 

TMD and teeth

SCHIFFMAN, Eric, et al. Diagnostic criteria for temporomandibular disorders (DC/TMD) for clinical and research applications: recommendations of the International RDC/TMD Consortium Network and Orofacial Pain Special Interest Group. Journal of oral & facial pain and headache, 2014, 28. Jg., Nr. 1, S. 6.

KLINGBERG, Gunilla, et al. Aspects on dental hard tissues in primary teeth from patients with Ehlers–Danlos syndrome. International journal of paediatric dentistry, 2009, 19. Jg., Nr. 4, S. 282-290.

MITAKIDES, John; TINKLE, Brad T. Oral and mandibular manifestations in the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 220-225.

ŞAKAR, Olcay, et al. Familial gigantiform cementoma with Ehlers-Danlos syndrome: A report of 2 cases. The journal of advanced prosthodontics, 2015, 7. Jg., Nr. 2, S. 178-182.

KAPFERER-SEEBACHER, Ines, et al. Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1R and C1S of complement. The American Journal of Human Genetics, 2016, 99. Jg., Nr. 5, S. 1005-1014.

SCHIFFMAN, Eric, et al. Diagnostic criteria for temporomandibular disorders (DC/TMD) for clinical and research applications: recommendations of the International RDC/TMD Consortium Network and Orofacial Pain Special Interest Group. Journal of oral & facial pain and headache, 2014, 28. Jg., Nr. 1, S. 6.

FERRÉ, François Côme, et al. Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study. BMJ open, 2012, 2. Jg., Nr. 2, S. e000705.

REINSTEIN, Eyal, et al. Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. European Journal of Human Genetics, 2013, 21. Jg., Nr. 2, S. 233-236.

JENSEN, Janicke Liaaen; STORHAUG, Kari. Dental implants in patients with Ehlers-Danlos syndrome: a case series study. International Journal of Prosthodontics, 2012, 25. Jg., Nr. 1.

ABEL, Mark D.; CARRASCO, Lee R. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2006, 102. Jg., Nr. 5, S. 582-590.

AWAL, D.; LLOYD, T. W.; PETERSEN, H. J. The role of the dental practitioner in diagnosing connective tissue and other systemic disorders: a case report of a patient diagnosed with type III Ehlers–Danlos syndrome. Oral Surgery, 2015, 8. Jg., Nr. 2, S. 96-101.

BUCKINGHAM, Robert B., et al. Temporomandibular joint dysfunction syndrome: a close association with systemic joint laxity (the hypermobile joint syndrome). Oral surgery, oral medicine, oral pathology, 1991, 72. Jg., Nr. 5, S. 514-519.

 

Gynecology 

HUGON-RODIN, Justine, et al. Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet Journal of Rare Diseases, 2016, 11. Jg., Nr. 1, S. 124.

 

EDS and rheumatoid diseases 

RODGERS, Kyla R., et al. Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. Scientific Reports, 2017, 7. Jg.

 

Results of the international EDS conference in NY 2016:

CASTORI, Marco, et al. A framework for the classification of joint hypermobility and related conditions. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

TINKLE, Brad, et al. Hypermobile Ehlers–Danlos syndrome (aka Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

BULBENA, Antonio, et al. Psychiatric and psychological aspects in the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

CHOPRA, Pradeep, et al. Pain management in the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

FIKREE, Asma, et al. Gastrointestinal involvement in the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

HAKIM, Alan, et al. Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—hypermobile type. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

HAKIM, Alan, et al. Chronic fatigue in Ehlers–Danlos syndrome—hypermobile type. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

Henderson FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S. Neurological and spinal manifestations of the Ehlers–Danlos syndromes. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Feb 1.

BLOOM, Lara, et al. The international consortium on the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 5-7.

BOWEN, Jessica M., et al. Ehlers–Danlos syndrome, classical type. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

BRADY, Angela F., et al. The Ehlers–Danlos syndromes, rare types. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 70-115.

Juul‐Kristensen, Birgit, et al. “Measurement properties of clinical assessment methods for classifying generalized joint hypermobility—A systematic review.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Vol. 175. No. 1. 2017.

ENGELBERT, Raoul HH, et al. The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 158-167.

Ericson, William B., and Roger Wolman. “Orthopaedic management of the Ehlers–Danlos syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

MITAKIDES, John; TINKLE, Brad T. Oral and mandibular manifestations in the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017.

SENEVIRATNE, Suranjith L.; MAITLAND, Anne; AFRIN, Lawrence. Mast cell disorders in Ehlers–Danlos syndrome. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 226-236.

BYERS, Peter H., et al. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 40-47.