Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a rare hereditary connective tissue disorder caused by impaired collagen production or, in some cases, by abnormalities in another component of connective tissue. It affects the skin, joints, and other organs. EDS leads to joint hypermobility, skin hyperelasticity, atrophic scarring, and fragility of blood vessels. It encompasses an entire group of conditions that vary in severity from mild to life‑threatening. The syndrome occurs in one of its forms in approximately one out of every 5,000 people. It is named after the two physicians who identified it at the turn of the 20th century.

Symptoms:

 A common feature of the various types is weakened connective tissue, which may cause joint hypermobility, fragile skin, and other issues related to ligaments and tissues.

Diagnosis:

Based on clinical findings, joint hyperflexibility, and skin hyperelasticity, a physician may indicate imaging studies of the joints (MRI) to assess the condition of the joints and other structures. The diagnosis is confirmed by a clinical geneticist, who can definitively confirm EDS through genetic and molecular testing. In certain cases, the diagnosis cannot be confirmed by identifying a specific gene mutation; in such situations, it can be made based on typical clinical symptoms and by ruling out other similar syndromes.

Treatment:

This condition is incurable, and treatment is therefore supportive only. Patients must avoid activities that put them at risk of injuring their easily damaged tissues. The use of protective gear and joint‑stabilizing supports can help, as can treatment of sprained joints. Vitamin C may also be administered to improve wound healing.

Patients with EDS need long‑term monitoring by various specialists. Regular check‑ups with a cardiologist are necessary (including echocardiography for early detection of valve abnormalities), with an internist for careful blood pressure monitoring and treatment of arterial hypertension, and with an orthopedist for preventive evaluations and timely treatment.

• typická hypermobilita (zvýšená ohybnosť) všetkých kĺbov
• kĺby sú nestabilné a ľahko dochádza k ich vyvrtnutiu
• ochabnutosť a hyperelasticita kože, ktorá vytvára dojem priesvitnosti
• koža je veľmi náchylná k zraneniu, na koži teda bývajú početné jazvy
• visiaca alebo prebytočná koža
• bežne u pacientov skolióza, osteoartróza
• často tiež postihnuté spojivové tkanivo vnútorných orgánov
• fragilita (krehkosť) ciev s početnými aneuryzmami - vakovitými výchlipkami na cievach
• krvácanie z ďasien a tráviaceho traktu
• nadmerná tvorba hematómov (modrín) a mäkkých pseudotumorov
• na lakťoch a kolenách xantelazmy - kožné výrastky
• u najťažších foriem náchylnosť k prasknutiu očnej gule, ruptúry čriev či veľkých ciev
• krvný obraz: prítomnosť abnormálnych krvných doštičiek (trombocytov)