Ehlers-Danlos syndrome is a rare genetic disease that affects connective tissue. Its exact numbers are not known, but it is estimated that it affects about 1 individual every 5,000 / 20,000, especially women. Unfortunately, the clinical variability often leads to underestimating it and makes the diagnosis more difficult.

The onset of the syndrome can occur at any age. In young children it is more difficult to diagnose, as joint laxity is quite normal up to a certain age. One of the main symptoms of Ehlers-Danlos syndrome is in fact an excessive laxity of the joints. This makes the person more vulnerable to dislocations and subluxations.

Several patients also exhibit soft and hypersensitive skin, with a marked tendency to bruising. The disease also affects the gastrointestinal system, causing intestinal disorders of various kinds. Among the possible complications related to the syndrome are chronic pain, fatigue, early osteoporosis and cardiovascular problems.

The parents of those who suffer often show a mild version of the symptoms. Nevertheless, to date we do not know the exact causes of the disease. One thinks of the halo-insufficiency of tenascin X, a protein encoded by the TNXB gene. This also helps make the diagnosis difficult.

Much of the diagnosis is based on clinical observation and family history. The doctors focus in particular on the articular hyperlassicity, on the hyperextensible skin and on a recurrent articular instability in the family. For the time being there is no prenatal diagnosis test for Ehlers-Danlos syndrome.

Unfortunately there is no definitive therapy for this disease, nor specific treatments. The most widespread approach is the treatment of symptoms through personalized therapies. Physiotherapy and rehabilitation can help to contain symptoms and are often accompanied by painkillers.

Source: orpha.net