Other comorbidities


Gastrointestinal problems

EDS patients often complain about gastrointestinal problems such as flatulences, diarrhea, constipation, food intolerances and many more.

Gastrointestinal problems may occur as a result of an underlying disease like dysautonomia or mast cell activation. These two disease often lead to severe gastrointestinal issues. GI disorders can also be a disease on their own or an expression of irritable bowel syndrome.

The therapy is symptomatic and depends of the underlying condition.

http://ehlers-danlos.com/2014-annual-conference-files/Heidi%20Collins.pdf

 

 

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.

 

Heart and blood vessel manifestation

EDS can lead to mitral valve proplaps or regurgitation, but both diseases also frequently occur in the healthy population.

Moreover in some patients with EDS hypermobile type aortic root enlargement occurs, but it is much less often than in EDS vascular type.

It is recommended for all EDS patients to see a cardiologist on a regular basis. A heart echo can show valve problems or vessel enlargements. In cases of already discovered vessel enlargements, or if there is the suspicion of enlargements in areas where ultrasound cannot show anything, a MR angiogram can be used.

 

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.

 

Chronic pain / fatigue / early arthrosis

Hypermobility can lead to arthrosis and degenerative problems due to the overload of the joints. Moreover patients with EDS often suffer from severe fatigue and chronic pain.

Preventive (in case the EDS diagnosis is already made) it is very important to pay attention to do exercises which are easy on the joints and it is helpful to keep the muscles in a well trained condition (if possible).

Chronic pain is treated by pain physicians or in pain centers. Usually EDS patients will get the same therapeutic approaches as all other chronic pain patients.

Castori at el. published some studies regarding fatigue and pain in EDS patients. (See publications)

http://ehlers-danlos.com/2015-annual-conference-files/Chopra.pdf

EDS and Pain

 

Muscle weakness / Overlap with myopathies

Especially patients with Tenascin X deficiency develop a wide range of muscular problems like weakness and myopathy. But also other types of EDS can have more or less severe muscle features.

Voermans et al. described an overlap between the EDS phenotype of TNX deficiency type and myopathies caused by collagen VI (such as Ulrich congenital muscular dystrophy).

 

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.

 

Easy bruising

It is known for a long time that EDS patients bruise easily. Platelets have a very thin collagen structure as well and this can also be defective. EDS patients have a higher risk of more bleeding even after small surgeries (like a biopsy). Hematomas can form very quick after minor trauma. Often the platelets have a functional problem but all other lab parameters are normal. The cause for this is mostly unknown.

It is very important to tell your physician in case you have a higher bleeding risk. The doctors need to be prepared if it comes to surgeries or medical emergency situations.

 

Osteoporosis

Coelho et al. and Theodoru et al. have described the connection between EDS and osteoporosis for the first time in two small studies of EDS hypermobile and classical type patients. Osteoporosis is a disease which leads to reduction of bone mass and therefore to reduced density of the bone. This reduced density often causes stress fractures.

 

Hormones

Hormones can affect the stability of a joint. Especially in women the EDS symptoms first occur during puberty with fluctuation of hormone concentration.

There are different types of hormones.
The metabolic steroids from the adrenal gland, probably influence the severity of pain. These hormones (for example cortisol) are subject to daily fluctuations (so-called circadian rhythms) and affect the joints to a lesser extent.

The sexual hormones have a much greater role in hypermobile patients. There are androgens, which are mainly male sex hormones (such as testosterone), and female sexual hormones (estrogen and progesterone).

Testosterone plays a role in terms of building muscles, which has a positive effect on the stability of the joints.
But the most important hormones for joint stability are estrogen and progesterone. Estrogens have a stabilizing, Progesterone a loosening effect on ligaments and tendons.
These hormones are released in varying concentration over the 28 days menstrual cycle. The progesterone increases at the end of the cycle (shortly before the period) and during the period.

This explains the increased symptoms during this time and the fact that some of the female patient experience the joint symptoms the first time during puberty.

Progesterone pills seem to influence the joints in a negative way.

 

EDS Symptoms and Comorbidities