EDS is a group of heritable connective tissue disorders, characterized by joint hyperlaxity and skin manifestations, including a stretchable and fragile skin with atropic scarring. Depending on the subtype systemic involvement, often reflecting organ fragility, may be present. Most of the know defects in EDS affect the synthesis of collagen fibers or glycosaminoglycans.
- Specific challenges associated with the recognition of the condition
Overlapping phenotypes between the subtypes of EDS. Mildest form merge with normality in the general population.
- Specific challenges associated with the diagnosis
Detailed clinical phenotyping – genetic testing – no clear diagnostic guidelines.
- Specific challenges associated with the treatment
Lack of strict guidelines – mainly expert opinion. Treatment is mainly symptomatic and the number of RCT trials is limited (except for the use of celiprolol in lack of strict guidelines-mainly expert opinions )
- Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care
Joint pain, complications of fragility of organs and vasculature, lack of natural history studies, mainly in the rare entities of EDS. Some patients may worry about the aesthetic aspects of the disease.
Prevalence : 1-2/ 10 000