Congenital analbuminemia

Congenital analbuminemia refers to the absence or severe reduction of circulating serum albumin. Patients usually show only slight limitations although albumin normally makes out the main part of serum proteins. This is because of the compensatory production of other serum proteins by the liver. 

Symptoms include low blood pressure, edemas and fatigue. Other possible symptoms include hypercholesterolemia and lipodystrophy. In rare cases, cardiovascular malformations or arteriosclerosis occur. 

A diagnosis is mostly made in the adult age, gender and ethnicity have no effect on the occurance of the syndrome. 

If the disease occurs in the fetal period, severe growth delays can be observed which can lead to fetal death.

The disease is inherited as an autosomal recessive trait caused by mutations in the HSA gene ALB (4q13.3).