[The Ehlers Danlos syndrome : a rare disease although commonly suspected].

Rev Med Liege

Service de Rhumatologie, CHU Liège, Belgique.

Published: November 2023

The Ehlers Danlos syndromes (EDS) are a heterogenous group of inherited connective tissue disorders characterized by generalized joint hypermobility and instability, tissue fragility and multiple functional disorders. The EDS hypermobility type (hEDS) is the most common but the mildest subtype of EDS and is defined by joint involvement. hSED diagnosis is based on clinical criteria because no genetic factors nor molecular basis have yet been identified. Since chronic pain constitutes one of hESD main symptoms, the diagnosis is frequently suspected although the syndrome is rare, with a prevalence estimated to be 1/10.000. An expert clinical evaluation is therefore necessary in order to establish an accurate diagnosis. This allows the implementation of physical therapy which is the only treatment that has proven efficacious in reducing joint instability, generalized pain and secondary osteoarthritis.

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