Library · Disease
Ehlers-Danlos syndrome
Make it clearer
The Ehlers-Danlos syndromes are a group of inherited diseases that affect connective tissue, the material that binds and supports everything else in the body. They are recognized by three features: joints that move more than they should, skin that stretches more than it should, and tissues that tear easily.
What fails is collagen, whose three strands normally coil into a triple helix. In Ehlers-Danlos, gene variants keep that helix from assembling properly. Collagen is the tissue's armor: if its strands do not lock together, it gives way wherever it is stressed. And because it is present in the skin, blood vessels, joints, and internal organs, the problem does not stay in one place.
They are not all the same. The 2017 international classification recognized thirteen types. The hypermobile type is the most common. The vascular type, in which the arteries themselves are fragile, is the most severe.
In brief
The Ehlers-Danlos syndromes are inherited connective tissue disorders marked by joint hypermobility, hyperextensible skin, and tissue fragility.
Pathogenic variants disrupt the collagen triple helix, and because that protein is found in skin, blood vessels, joints, and internal organs, the defect affects many systems.
Collagen is the tissue's armor: if its strands do not assemble properly, it gives way.
The 2017 international classification recognized thirteen types: the hypermobile type is the most common, and the vascular type, with arterial fragility, is the most severe.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingEhlers-Danlos Syndromes, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated