/familial lipoprotein lipase deficiency

familial lipoprotein lipase deficiency

Rare Disease

MONDO:0009387

Also Known As

familial chylomicronemia syndromehyperlipoproteinemia type Ihyperlipoproteinemia, type 1hyperlipoproteinemia, type Itype I hyperlipoproteinemiaFredrickson type I hyperlipoproteinemiaFredrickson type I lipaemiaLPL deficiencyfamilial LPL deficiencyfamilial hyperlipoproteinemia type Ifamilial lipoprotein lipase deficiency (disorder) [ambiguous]familial lipoprotein lipase deficiency with type I phenotypehigh density lipoprotein cholesterol level QTL 11hypercholesterinaemic xanthomatosishyperchylomicronemiamixed hyperglyceridemiaBurger-Grutz syndromechylomicronemia, familialendogenous hypertriglyceridaemiafamilial fat-induced hypertriglyceridemiafamilial hyperchylomicronemiahyperchylomicronemia, familialhyperlipemia, essential familialhyperlipemia, idiopathic, Burger-Grutz typehyperlipoproteinemia, type 1Alipase D deficiencylipd deficiencylipoprotein lipase deficiencylipoprotein lipase deficiency, familial

Definition

Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.