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Ehlers-Danlos Syndrome

Of the different types if Ehlers-Danlos syndrome, type IV is associated with an increased risk of death. Ehlers–Danlos type IV syndrome (EDS) is a heterogeneous group of inheritable connective tissue disorders, characterized by joint hyper-mobility, skin extensibility and tissue fragility. EDS results from the molecular abnormality of the connective tissues, and the clinical and genetic heterogeneity are in part, a reflection of an underlying biochemical heterogeneity (Pope, 1997). EDS is an autosomal dominant disorder that is common and severe, affecting 1 in 5,000 to 1 in 10,000 people worldwide.

Type IV EDS is generally regarded as the most serious form due to the possibility of arterial or organ rupture. Patients with this disease usually suffer from vascular complications, intestinal perforations, pneumothorax, atrophic scarring, and spontaneous ruptures (Khalid, 2001). Such ruptures are more likely between ages 20-40, although they can occur any time, and can be life-threatening. The rupture of large arteries in EDS area a particular sign of the type IV variety and carries a high mortality rate of 64%, and is the leading cause of death in 90% of EDS type IV patients (Pope, 1997).

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