Autosomal recessive · Fewer than 100 affected people have been reported worldwide.
Caused by changes in both copies of ALB, the gene for albumin. The changes prevent albumin from being made or released, and the body partly compensates by making more of other plasma proteins.
Signs and symptoms
Very low or absent albumin in the blood, often with mild swelling, tiredness and low blood pressure. Raised cholesterol is common in adults. Pregnancy problems such as miscarriage and preterm birth have been reported, and infants and young children may be at increased risk of serious illness.
What a diagnosis changes
Many people need no regular treatment; cholesterol is monitored and managed, and intravenous albumin infusions have been used to raise albumin and lower lipid levels. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Genes analysed
Also known as
ANALBA; analbuminemia
