Conditions / Genetic
familial apolipoprotein C-II deficiency
info · Genetic
A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.
Signs and symptoms
- Hypertriglyceridemia
- Hypercholesterolemia
- Decreased circulating apolipoprotein C-II concentration
- Splenomegaly
- Increased circulating chylomicron concentration
- Hepatomegaly
- Pancreatitis
- Lipemia retinalis
- Eruptive xanthomas
Medications that may treat it
Also known as: C-II anapolipoproteinemia; familial APOC2 deficiency; familial apoC-II deficiency; hyperlipoproteinemia, type 1b; hyperlipoproteinemia, type Ib