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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).


The outlook for those affected with EDS depends on the severity of the symptoms. The severity affects the frequency of complications. Most individuals have a normal life, but people with blood vessel involvement, especially EDS type IV, have an increased risk of fatal complications. The average life expectancy for a person with EDS type IV is 48 years. Most of the deaths were the result from organ ruptures while a small percentage were the result of bowel ruptures. Pregnancy complications in women with EDS type IV are common. Women with EDS type IV have an increased risk of complications during pregnancy as well as a 50% risk of having an affected child. Even if all considerations are taken during pregnancy, the maternity mortality rate has risen 25% in cases involving EDS due to ruptures of artery, bowels and/or uterus during the pregnancy (Khalid, 2000).

Diagnosis of EDS is based upon clinical findings and upon the family history. Since many patients do not fit precisely into one of the specific types of EDS, a diagnosis is often delayed or overlooked. EDS should always be suspected in young patients who show signs of spontaneous bowel perforations or vascular accident. The clinical diagnosis of EDS type IV is based for four criteria: easy bruising, thin skin with visible veins, characteristic facial features, and rupture or arteries, uterus, or intestines (Beighton, 1998). With current advances in detection a simply skin biopsy can be used to diagnose EDS. An alternative to a biopsy would be a B-mode ultrasound as a noninvasive way for demonstrating thin skin. For diagnosing children, the determination of serum levels of procollagen type II aminopropeptide is a simple test for diagnosis. (Pepin, 2000) Electron microscopy has been considered as a form of diagnosis, but this form of testing is not considered practical since it is expensive, time consuming and requires live cells. In order to accurately diagnose EDS, a thorough personal and family medical history and clinical exam should be obtained, searching for symptoms of EDS and if those symptoms are discovered, a biopsy is to be performed to establish a diagnosis (Autio, 1997).

A common symptom of EDS type IV is constip

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