Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

Article Abstract:

People who have an arterial or gastrointestinal rupture may have Ehlers-Danlos syndrome type IV. This disease is caused by a defect in type III collagen production due to a mutation of the gene for type III procollagen (COL3A1). This leads to weakness in arteries and many organs, including the intestines and uterus. In a study of 220 patients with this syndrome, only 25% had a complication by the age of 20, but 80% had one by the age of 40. The average survival was 48 years and many deaths were caused by the rupture of an artery.

Health aspects, Peripheral vascular diseases, Connective tissue diseases

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Albuminuria and vascular damage -- the vicious twins

Article Abstract:

All patients with diabetes should have a urinalysis frequently to check for albumin in the urine. Albumin is a protein whose presence in urine is a sign of kidney dysfunction. A study published in 2003 showed that good control of blood sugar could stop the excretion of albumin in urine. This may be a sign that blood sugar control may prevent diabetic kidney disease. Diabetic kidney disease may also be a marker for cardiovascular disease in general.

Prevention, Diabetic nephropathies, Albuminuria

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An exception to the rule

Article Abstract:

Researchers in the Netherlands have identified patients with Ehlers-Danlos syndrome who do not have mutations in the genes for collagen. Instead, they have a deficiency of tenascin-X, another connective tissue protein.

Genetic aspects, Ehlers-Danlos syndrome

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