Liste der mit EDS beschriebenen Komorbiditäten und Symptome in der Literatur


(Keine Gewähr auf Richtigkeit oder Vollständigkeit)

Osteoporose 

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.

Arthrose

Castori, Marco, et al. „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 158.8 (2012): 2055-2070.

Chiari / CCI /  HWS Instabilitäten / TC

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).

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.

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.

Mastzellaktivierungssyndrom

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

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.

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).

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.

Blutungsneigung / Thrombozytenfehlfunktion

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.

Dysautonomie

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.

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.

Wallman D, Weinberg J, Hohler AD. Ehlers–Danlos Syndrome and Postural Tachycardia Syndrome: A relationship study. Journal of the neurological sciences. 2014 May 15;340(1):99-102.

Gastroparese

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.

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.

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.

Neurologische und neuromuskuläre Beschwerden (Neuropathie, Epilepsie, CSF leaks…)

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

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.

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).

Chronische Schmerzen/ Müdigkeit/ Erschöpfung

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.

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.

Stoler JM, Oaklander AL. Patients with Ehlers Danlos syndrome and CRPS: a possible association?. Pain. 2006 Jul 31;123(1):204-9.

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.

Barron DF, Cohen BA, Geraghty MT, Violand R, Rowe PC. Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls. The Journal of pediatrics. 2002 Sep 30;141(3):421-5.

Nijs J, Aerts A, De Meirleir K. Generalized joint hypermobility is more common in chronic fatigue syndrome than in healthy control subjects. Journal of manipulative and physiological therapeutics. 2006 Jan 31;29(1):32-9.

Mitralklappeninsuffizienz/ Aortenaneurysmen

Wallis W. Cardiac abnormalities associated with Ehlers-Danlos Syndrome. EDS UK Information Sheet

Levy HP. Ehlers-Danlos syndrome, hypermobility type.

Lum YW, Brooke BS, Black III JH. Contemporary management of vascular Ehlers–Danlos syndrome. Current opinion in cardiology. 2011 Nov 1;26(6):494-501.

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.

Augenprobleme

Gharbiya M, Moramarco A, Castori M, Parisi F, Celletti C, Marenco M, Mariani I, Grammatico P, Camerota F. Ocular features in joint hypermobility Syndrome/Ehlers-Danlos syndrome hypermobility type: a clinical and in vivo Confocal Microscopy Study. American journal of ophthalmology. 2012 Sep 30;154(3):593-600.

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).

James Kundart, Ehlers-Danlos Syndrome and the Eye, Course Systemic Disease

Pesudovs K. Orbscan mapping in Ehlers-Danlos syndrome. Journal of Cataract & Refractive Surgery. 2004 Aug 31;30(8):1795-8.

Robertson I. Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus. The Medical journal of Australia. 1975 May;1(18):571-3.

Woodward EG, Morris MT. Joint hypermobility in keratoconus. Ophthalmic and Physiological Optics. 1990 Oct 1;10(4):360-2.

Gastrointenstinale Symptome/ Reizdarm

Zarate N, Farmer AD, Grahame R, Mohammed SD, Knowles CH, Scott SM, Aziz Q. Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link?. Neurogastroenterology & Motility. 2010 Mar 1;22(3):252-e78.

Vounotrypidis P, Efremidou E, Zezos P, Pitiakoudis M, Maltezos E, Lyratzopoulos N, Kouklakis G. Prevalence of joint hypermobility and patterns of articular manifestations in patients with inflammatory bowel disease. Gastroenterology research and practice. 2010 Feb 11;2009.

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.

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).

Schlafstörungen

Howard RS, Henderson F, Hirsch NP, Stevens JM, Kendall BE, Crockard HA. Respiratory abnormalities due to craniovertebral junction compression in rheumatoid disease. Annals of the rheumatic diseases. 1994 Feb 1;53(2):134-6.

Sankari A, Martin JL, Bascom AT, Mitchell MN, Badr MS. Identification and treatment of sleep-disordered breathing in chronic spinal cord injury. Spinal cord. 2015 Feb 1;53(2):145-9.

Proserpio P, Lanza A, Sambusida K, Fratticci L, Frigerio P, Sommariva M, Stagni EG, Redaelli T, De Carli F, Nobili L. Sleep apnea and periodic leg movements in the first year after spinal cord injury. Sleep medicine. 2015 Jan 31;16(1):59-66.

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.

Guilleminault C, Primeau M, Chiu HY, Yuen KM, Leger D, Metlaine A. Sleep-disordered breathing in Ehlers-Danlos syndrome: a genetic model of OSA. CHEST Journal. 2013 Nov 1;144(5):1503-11.

Temperomandibuläre Dysfunktion

Jerjes W, Upile T, Shah P, Abbas S, Vincent A, Hopper C. TMJ arthroscopy in patients with Ehlers Danlos syndrome: case series. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2010 Aug 31;110(2):e12-20.

Hagberg C, Korpe L, Berglund B. Temporomandibular joint problems and self‐registration of mandibular opening capacity among adults with Ehlers‐Danlos syndrome. A questionnaire study. Orthodontics & craniofacial research. 2004 Feb 1;7(1):40-6.

Tinkle BT. Joint Hypermobility Handbook – A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome. Taschenbuch, Left Paw Press, Llc; Auflage: 1 (12. Juli 2010)

Hernien/ Prolaps

Lin IC, Ko SF, Shieh CS, Huang CF, Chien SJ, Di Liang C. Recurrent congenital diaphragmatic hernia in Ehlers-Danlos syndrome. Cardiovascular and interventional radiology. 2006 Oct 1;29(5):920-3.

Iglesias JL, Renard T. Diaphragmatic hernia in an 8-year-old with Ehlers-Danlos syndrome. Pediatric surgery international. 1998 Oct 1;13(8):553-5.

McIntosh LJ, Mallett VT, Frahm JD, Richardson DA, Evans MI. Gynecologic disorders in women with Ehlers-Danlos syndrome. Journal of the Society for Gynecologic Investigation. 1995 May 1;2(3):559-64.

Carley ME, Schaffer J. Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers-Danlos syndrome. American journal of obstetrics and gynecology. 2000 May 31;182(5):1021-3.

Lammers K, Lince SL, Spath MA, van Kempen LC, Hendriks JC, Vierhout ME, Kluivers KB. Pelvic organ prolapse and collagen-associated disorders. International urogynecology journal. 2012 Mar 1;23(3):313-9.

Al-Rawi ZS, Al-Dubaikel KY, Al-Sikafi H. Joint mobility in people with hiatus hernia. Rheumatology. 2004 May 1;43(5):574-6.

Psychopathologische Manifestation

Kirby A, Davies R. Developmental Coordination Disorder and Joint Hypermobility Syndrome–overlapping disorders? Implications for research and clinical practice. Child: care, health and development. 2007 Sep 1;33(5):513-9.

Ghibellini G, Brancati F, Castori M. Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Mar 1 (Vol. 169, No. 1, pp. 107-116).

Pasquini M, Celletti C, Berardelli I, Roselli V, Mastroeni S, Castori M, Biondi M, Camerota F. Unexpected association between joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type and obsessive–compulsive personality disorder. Rheumatology international. 2014 May 1;34(5):631-6.

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).

Fibromyalgie

Miller VJ, Zeltser R, Yoeli Z, Bodner L. Ehlers-Danlos syndrome, fibromyalgia and temporomandibular disorder: report of an unusual combination. Cranio: the journal of craniomandibular practice. 1997 Jul;15(3):267-9.

Hermanns-Le T, Pierard GE, Angenot P. [Fibromyalgia: an unrecognized Ehlers-Danlos syndrome hypermobile type?]. Revue médicale de Liège. 2013 Jan;68(1):22-4.

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

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.

Acasuso‐Díaz M, Collantes‐Estéez E. Joint hypermobility in patients with fibromyalgia syndrome. Arthritis & Rheumatism. 1998 Feb 1;11(1):39-42.

Multiple Sklerose

Hart DA. Curbing Inflammation in Multiple Sclerosis and Endometriosis: Should Mast Cells Be Targeted?. International journal of inflammation. 2015 Oct 15;2015.

Conti P, Kempuraj D. Important role of mast cells in multiple sclerosis. Multiple Sclerosis and Related Disorders. 2016 Jan 31;5:77-80.

Ozlece HK, Ilik F, Huseyinoglu N. Coexistence of Ehlers-Danlos syndrome and multiple sclerosis. Iranian journal of neurology. 2015;14(2):116-7.

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

Gynäkologische Probleme

Lin KQ, Zhu LB, Zhang XM, Lin J. [Role of mast cells in estrogen-mediated experimental endometriosis in rats]. Zhejiang da xue xue bao. Yi xue ban= Journal of Zhejiang University. Medical sciences. 2015 May;44(3):269-77.

Hermanns-Lê T, Piérard GE, Piérard-Franchimont C, Delvenne P. Gynecologic and obstetric impact of the ehlers-danlos syndrome: clues from scrutinizing dermal ultrastructural alterations. Gynecology. 2014 Mar 26;2(1):1.

Castori M, Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Morrone A, Venturini M, Grammatico P, Colombi M. Gynecologic and obstetric implications of the joint hypermobility syndrome (aka Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients. American Journal of Medical Genetics Part A. 2012 Sep 1;158(9):2176-82.

Sorokin Y, Johnson MP, Rogowski N, Richardson DA, Evans MI. Obstetric and gynecologic dysfunction in the Ehlers-Danlos syndrome. The Journal of reproductive medicine. 1994 Apr;39(4):281-4.

Autoimmunerkrankungen

Abonia JP, Wen T, Stucke EM, Grotjan T, Griffith MS, Kemme KA, Collins MH, Putnam PE, Franciosi JP, von Tiehl KF, Tinkle BT. High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. Journal of Allergy and Clinical Immunology. 2013 Aug 31;132(2):378-86.

Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, Walter JE, Ehl S. Severe eczema and hyper-IgE in Loeys–Dietz-syndrome—contribution to new findings of immune dysregulation in connective tissue disorders. Clinical Immunology. 2014 Jan 31;150(1):43-50.

Hoffman GS, Filie JD, Schumacher HR, Ortiz‐Bravo E, Tsokos MG, Marini JC, Kerr GS, Ling Q, Trentham DE. Intractable vasculitis, resorptive osteolysis, and immunity to type i collagen in type viii ehlers‐danlos syndrome. Arthritis & Rheumatism. 1991 Nov 1;34(11):1466-75.

Dahan S, Tomljenovic L, Shoenfeld Y. Postural Orthostatic Tachycardia Syndrome (POTS)–A novel member of the autoimmune family. Lupus. 2016 Feb 3:0961203316629558.

Wang XL, Chai Q, Charlesworth MC, Figueroa JJ, Low P, Shen WK, Lee HC. Autoimmunoreactive IgGs from patients with postural orthostatic tachycardia syndrome. PROTEOMICS-Clinical Applications. 2012 Dec 1;6(11-12):615-25.

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

Skoliose

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.

Vitaminmängel

Hines C, Davis WD. Ehlers-Danlos syndrome with megaduodenum and malabsorption syndrome secondary to bacterial overgrowth: A report of the first case. The American journal of medicine. 1973 Apr 30;54(4):539-43.

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).

Atemwege 

Morgan AW, Pearson SB, Davies S, Gooi HC, Bird HA. Asthma and airways collapse in two heritable disorders of connective tissue. Annals of the rheumatic diseases. 2007 Oct 1;66(10):1369-73.

Chatzoudis D, Kelly TJ, Lancaster J, Jones TM. Upper airway obstruction in a patient with Ehlers–Danlos syndrome. The Annals of The Royal College of Surgeons of England. 2015 Apr;97(3):e50-1.

Ayres JG, Pope FM, Reidy JF, Clark TJ. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax. 1985 Apr 1;40(4):300-5.

Trichterbrust

Ayres JG, Pope FM, Reidy JF, Clark TJ. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax. 1985 Apr 1;40(4):300-5.

Zähne

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.

Hormone

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.