Other comorbidities


Gastrointestinal problems

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

Gastrointestinal issues may occur as a result of an underlying condition like dysautonomia or mast cell activation. These two conditions 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 on the underlying condition.

 

Sources:

Dr. Collins’ presentation on GI issues:

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, furthermore, other heart valves can be affected. However, mild mitral valve prolapse is frequently found in the healthy population as well.

Blood vessels may be affected by EDS, too. For example, in some patients with EDS hypermobile type aortic root enlargement occurred, but it was much less often found in hEDS than in vEDS.

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 degeneration due to the excessive forces on joints. Moreover, patients with EDS often suffer from severe fatigue and chronic pain.

It is very important to choose exercises that are easy on the joints. Building up muscles to compensate the weak connective tissue is number one priority.

Chronic pain is treated by pain management doctors or in specialized pain centers.

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

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 phenotype of TNX deficiency 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 has been known for a long time that EDS patients bruise easily. Platelets contain collagen as well, which may also be defective. Furthermore, EDS patients have a higher risk of bleeding even after small surgeries, like a biopsy. Hematomas can form quickly after minor trauma. Often, platelets have a functional problem, while all other lab parameters are normal. The cause for this is mostly unknown.

It is important to tell your physician if you have a higher bleeding risk. The doctor needs to be prepared in case of surgeries or medical emergency situations.

 

Osteoporosis

Coelho et al. and Theodoru et al. described the connection between EDS and osteoporosis for the first time in two small studies of hEDS and cEDS patients. Osteoporosis is a condition that leads to loss of bone mass, and therefore to a reduced density of the bone. This reduced density often causes stress fractures.

 

Hormones

Hormones can affect the stability of a joint. Especially in women, EDS symptoms sometimes first occur during puberty. It is assumed this might be because of the fluctuation of hormone concentration.

There are different types of hormones:
1. Metabolic steroids, produced by 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 joint stability to a lesser extent.

2. 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, such as 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 menstruation.

This could explain why symptoms tend to increase during this time, and it explains the fact that some of the female patients experience the onset of EDS symptoms during puberty.

Birth control with a high progesterone concentration seem to influence the joints in a negative way.

 

EDS Symptoms and Comorbidities

EDS Symptoms and Comorbidities