familial lipoprotein lipase deficiency
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.
MONDO:0001336
familial hyperlipidemia
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0018637
familial chylomicronemia syndrome
is_a
MONDO:0037748
hyperlipoproteinemia
is_a
Burger-Grutz syndrome
related
LPL deficiency
exact
endogenous hypertriglyceridaemia
related
familial chylomicronemia syndrome
broad
familial fat-induced hypertriglyceridemia
related
familial hyperchylomicronemia
related
familial lipoprotein lipase deficiency (disorder) [ambiguous]
exact
familial lipoprotein lipase deficiency with type I phenotype
exact
high density lipoprotein cholesterol level QTL 11
exact
hyperchylomicronemia
exact
hyperlipoproteinemia type I
broad
hyperlipoproteinemia, type 1
broad
hyperlipoproteinemia, type I
broad
lipoprotein lipase deficiency, familial
related
type I hyperlipoproteinemia
broad