Diseases

Ehlers Danlos Syndrome (EDS)

Ehlers Danlos syndrome (or EDS) is a group of genetic diseases affecting connective tissue, particularly collagen. It is an orphan disease that exists in many forms, sometimes highly debilitating and whose evolution is not predictable, because it is individual.

In France, there are 5, 000 to 10, 000 people with Ehlers Danlos syndrome. However, there may be more patients.

A rare disease with a difficult diagnosis

The symptoms of Ehlers Danlos Syndrome (EDS) are sometimes misinterpreted because this pathology is only known in some of its aspects, the most spectacular (skin stretch, joint flexibility), but not the most disabling (pain, fatigue ).

Patients with Ehlers Danlos syndrome are often misunderstood and sometimes suspected by the medical profession and their entourage to have the problem "in their head".

SED is often associated with Tietze syndrome, Cyriax syndrome, Arnold neuralgia, Raynaud's syndrome.
Ehlers-Danlos syndrome is often confused with

  • fibromyalgia (or: diffuse idiopathic polyalgic syndrome)
  • Marfan syndrome (or Marfan's disease): a genetic disease of the connective tissue affecting all the organs of the body.

The diagnosis

To confirm the Ehlers Danlos syndrome, today there is no biological, histological or genetic marker (ie no specific sign for blood test or tissue sampling): only one doctor can make the diagnosis based on clinical symptoms, with the participation of the patient and his family (especially for children).

In order to establish a diagnosis of Ehlers Danlos syndrome, it is probably best to go to a pediatrician (it is even better if he is specialized in genetic diseases). Or to a rheumatologist or a specialist in functional rehabilitation, to an internist.

You want to react, to give your testimony or to ask a question? Appointment in our thematic FORUMS or A doctor answers you !

Read also :

- Duchenne muscular dystrophy: a genetic disease that destroys muscles
- Fibromyalgia: symptoms and treatments
- Acromegaly: the disease of gigantism

Author: Ladane Azernour Bonnefoy.
Expert Consultant: Professor Claude Hamone, Physician Specialist in Physical Medicine and Rehabilitation

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