Aagenaes syndrome

Aagenaes syndrome is an underdevelopment of the lymphatic vessels leading to a severe, chronic lymphedema in the legs. As infants, the patients suffer from recurrent cholestasis, which decreases during childhood and then only occurs intermittently. Later, liver cirrhosis develops.

The disease was discovered in only six, mainly Norwegian families, suggesting a common ancestor with impaired lymphatic vessel formation. The genetic defect is located on chromosome 15q and is inherited as an autosomal recessive trait.

The life expectancy of the patients is very variable. Some patients died in their childhood due to liver cirrhosis or bleeding caused by vitamin K deficiency, whereas one female patient lived to be 50 years old.