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.
Aagenaes syndrome describes underdevelopment of the lymphatic vessels, leading to severe, chronic lymphatic disease in the legs. Patients suffer from recurrent cholestasis as infants, decreasing as they progress through childhood and then appearing only periodically. Later, liver cirrhosis develops. The disease was discovered in only six, mainly Norwegian, families, suggesting a common ancestor with a disordered formation of the lymphatic glands. 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 childhood due to liver cirrhosis or bleeding from vitamin K deficiency, while a woman turned 50. & nbsp;