Ehlers-Danlos syndrome is a group of inherited disorders which are affecting the connective tissues, primarily the joints, blood vessel walls and skin. The connective tissue is a complex mixture of proteins and other substances which provide elasticity and strength to the underlying structures in the body. Those people, who have this syndrome, usually have overly flexible joints and stretchy and fragile skin. [1] This can become a problem if you have a wound which requires stitches because the skin is not strong enough to hold them. The more severe form of this disorder which is called Ehlers-Danlos syndrome, vascular type, can cause the walls of the uterus, intestines or blood vessels to rupture. The Ehlers-Danlos syndrome, vascular type, can have serious complications in the pregnancy so this is a reason why you should talk with a genetic counselor before you start a family.
Symptoms:
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The symptoms of Ehlers-Danlos syndrome depend on its type.
Classic Ehlers-Danlos syndrome:
The signs and symptoms of the most common form of Ehlers-Danlos syndrome include:
Fragile skin:
The damaged skin does not heal well. The stitches which are used to close a wound will often tear out and leave a gaping scar. These scars may look crinkly and thin. [2]
Overly flexible joints:
The connective tissues which hold joints together are looser which means that your joints can move far past the normal range of motion. Also, the joint dislocation and pain are common. [1]
Stretchy skin:
The weakened connective tissue is allowing your skin to stretch much more than usual. You will notice that you may be able to pull a pinch of skin up away from your flesh but it will snap right back into place when you let go. Also, your skin might feel exceptionally soft and velvety. [2]
The symptoms can vary from one person to another as well as their severity. Some people with Ehlers-Danlos syndrome can have overly flexible joints, but they will have few or none of the skin symptoms.
Ehlers-Danlos syndrome, vascular type:
Those people who have this syndrome, vascular type, often share distinctive facial features of prominent eyes, small earlobes, thin upper lip and a thin nose. Also, they have thin and translucent skin which bruises very easily. In the fair – skinned people, the underlying blood vessels are visible through their skin. The Ehlers-Danlos syndrome, vascular type, can weaken the aorta (your heart’s largest artery), as well as the arteries to other regions of your body. If there is a rupture of any of these larger blood vessels can be fatal. The Ehlers-Danlos syndrome, vascular type, can weaken the walls of the uterus or large intestines that can also rupture.
Causes:
Different types of the Ehlers-Danlos syndrome are associated with a variety of genetic causes and some of them are inherited and passed on from parent to child. There is a 50% chance that you will pass on gene to each of your children if you have the most common varieties of Ehlers-Danlos syndrome [3]. If you have a personal of family history of Ehlers-Danlos syndrome and if you want to start a family, then you should talk with a genetic counselor which is a health care professional trained to assess the risk of inherited disorders. He or she can help you to understand the inheritance pattern of Ehlers-Danlos syndrome which affects you and the risk which you wear for your children. Your doctor can make genetic tests on a sample of your blood which can confirm the diagnosis if you are not sure that you have Ehlers-Danlos syndrome and he can help you with your treatment.
Complications:
The complications depend on the types of signs and symptoms which you have. The fragile skin can develop prominent scarring. [4] The overly flexible joints can result in joint dislocations and early – onset arthritis. Those people who have Ehlers-Danlos syndrome, vascular type, are having risk of often ruptures of major blood vessels. Also, some organs like intestines and uterus can also rupture. Pregnancy can increase the mentioned risk factors. [5]
References:
[1] Castori M. Ehlers-Danlos syndrome, hypermobility type: An underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. International Scholarly Research Notices. 2012.
[2] Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers–Danlos syndrome, classical type. American Journal of Medical Genetics. 2017;175(1):27-39.
[3] UW Medicine. Ehlers-Danlos syndrome. 2011. Retrieved from orthop.washington.edu/patient-care/articles/arthritis/ehlers-danlos-syndrome.html
[4] Edimo CO, Wajsberg JR, Wong S, et al. The dermatological aspects of hEDS in women. International Journal of Women’s Dermatology. 2021;7(3):285-9.
[5] Lind J, Wallenburg HCS. Pregnancy and the Ehlers–Danlos syndrome: a retrospective study in a Dutch population. Acta Obstetricia et Gynecologica Scandinavica. 2002;81(4):293-300.
