familial GPIHBP1 deficiency

info · Genetic

A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3.

Signs and symptoms

Lipemia retinalis
Hypertriglyceridemia
Decreased circulating HDL-C concentration
Decreased circulating LDL-C concentration
Hepatomegaly
Increased circulating chylomicron concentration
Recurrent pancreatitis
Failure to thrive
Splenomegaly
Premature coronary artery atherosclerosis

Also known as: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency; hyperlipoproteinemia type 1D; hyperlipoproteinemia type ID