Conditions / Genetic
familial lipoprotein lipase deficiency
info · Genetic · ICD-10: E78.3
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
Signs and symptoms
- Eruptive xanthomas
- Hypercholesterolemia
- Lactescent serum
- Acute pancreatitis
- Lipemia retinalis
- Vomiting
- Episodic abdominal pain
- Hyperlipidemia
- Increased circulating chylomicron concentration
- Nausea
Medications that may treat it
Also known as: Fredrickson type I hyperlipoproteinemia; Fredrickson type I lipaemia; familial LPL deficiency; familial hyperlipoproteinemia type I; hypercholesterinaemic xanthomatosis