Hypermobile Ehlers– Danlos syndrome: overview of signs, symptoms, and treatments after a thwarted history

Stéphane Daens Published in the journal : October 2018 Category : Actualités du médecin généraliste

Summary :

Ehlers-Danlos syndrome (EDS) is the most common inherited connective tissue disorder, primarily affecting collagen and estimated to concern 1 or 2% of the general population. A set of new criteria and nosology was published in 2017. The hypermobile EDS (hEDS) subtype is a multi-systemic disease that can affect all organs. Patients suffer from many clinical signs and diversified symptoms. While this subtype is mainly characterized by hypermobility, cutaneous fragility, and hemorrhagic problems, other cardiovascular, urinary, gynecologic, or gastrointestinal problems may be observed as well. An important triad is made up of proprioception disorders, dysautonomia, and sense organs disturbances. Other comorbidities include severe pain, chronic fatigue, psychological and psychiatric disorders, or even autism, sleep disturbances with obstructive apnea, and finally, mast cell activation syndrome. Many physical or orthotic treatments and pharmaceutical drugs are currently available to relieve patients’ symptoms and help them overcome familial, social, or societal isolation, in which they are frequently locked up.

Key Words

Hypermobile Ehlers-Danlos Syndrome, hEDS

What is already known about the topic?

Ehlers-Danlos syndrome (EDS) is an inherited disorder of connective tissue. Far too often, it is considered a rare disease and thus not recognized by health professionals. However, EDS does affect almost 2% of the population. Even nowadays, a great many patients are not diagnosed correctly and do not receive appropriate care.

What does this article bring up for us?

The Ehlers-Danlos syndrome’s (hypermobile type) history is revisited, as well as its main symptoms and clinical signs. The new 2017 diagnostic criteria are explained and further discussed. Current recommendations and treatments are presented.