Chylomicron retention disease

Chylomicron retention disease is a familial hypocholesterolemia and is characterized mainly by prosperity loss, vitamin E deficiency and hepatic complications.

The disease already manifests itself in infancy or early childhood and is caused by multiple mutations in the SAR1B gene (5q31.1). This gene is involved in the transport of chylomicrons and thus the lipids from the diet also get involved.

The disease is difficult to diagnose because of the nonspecific symptoms. Very severe symptoms usually occur only in the homozygous form of the disease.