Ehlers-Danlos syndrome

Overview

A set of hereditary conditions known as Ehlers-Danlos syndrome predominantly affect the connective tissues of your skin, joints, and blood vessel walls. The intricate mixture of proteins and other substances that makes up connective tissue gives the underlying structures in your body their strength and flexibility.

Ehlers-Danlos syndrome sufferers typically have excessively flexible joints and delicate, stretchy skin. If you have a wound that needs stitches, this could become an issue because the skin is frequently not tough enough to support the stitches.

Your uterus, intestines, or blood vessel walls may rupture if you have vascular Ehlers-Danlos syndrome, a more severe version of the condition. Before beginning a family, you might wish to speak with a genetic counselor about vascular Ehlers-Danlos syndrome because it might present major potential difficulties during pregnancy.

Types of Ehlers-Danlos syndrome

Based on the location of the affected area and the symptoms it produces, medical professionals divide Ehlers-Danlos syndrome into 13 types.

The most prevalent types result in symptoms including fragile, easily torn skin and loose, unstable joints. Particularly vascular Ehlers-Danlos syndrome (EDS that affects your blood vessels), certain rare forms of Ehlers-Danlos syndrome might result in deadly complications.

The type of EDS you have and the treatments you’ll need to control your symptoms will be disclosed to you by your doctor.

Symptoms

Ehlers-Danlos syndrome comes in a variety of forms, however the following are the most typical signs and symptoms:

• Overly flexible joints. Your joints have a greater range of motion because the connective tissue that keeps them together is looser. Dislocations and joint pain are frequent.
• Stretchy skin. Skin that has weaker connective tissue can stretch more than usual. A pinch of skin may be able to be pulled up away from your flesh, but if you release it, it will return to its original position. Additionally, your skin may feel overly smooth and silky.
• Fragile skin. Skin damage frequently does not heal well. For instance, it is common for the stitches used to seal a wound to come out, leaving a gaping scar. These scars could appear thin and wrinkled.

Depending on the particular form of Ehlers-Danlos syndrome you have, the intensity of your symptoms may differ from person to person. The hypermobile Ehlers-Danlos syndrome is the most prevalent form.

Vascular Ehlers-Danios syndrome

Vascular Ehlers-Danlos disease patients frequently have small earlobes, a prominent eye, a thin upper lip, and a thin nose. Additionally, their skin is thin, transparent, and prone to bruising. The underlying blood vessels are highly apparent through the skin in those with fair complexion.

The main artery in your heart, the aorta, as well as the arteries leading to other parts of your body, may become weaker if you have vascular Ehlers-Danlos syndrome. Any of these larger blood arteries that rupture can be deadly. Additionally, the vascular type may weaken the walls of the large intestine or uterus, increasing the risk of rupture.

Causes

Many genetic factors, some of which are inherited and passed down from parent to kid, are linked to different forms of Ehlers-Danlos syndrome. You have a 50% probability of passing on the gene to each of your offspring if you have the hypermobile variant of Ehlers-Danlos syndrome, which is the most prevalent form.