805 Familial Lipoprotein Lipase Deficiency
Background: Mutations in the LPL gene cause familial lipoprotein lipase deficiency. Symptoms of familial LPL deficiency usually begin in childhood and include abdominal pain, acute and recurrent inflammation of the pancreas, skin lesions called eruptive cutaneous xanthoma and an enlargement of the liver and spleen. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. Aims: Early diagnosis, routine surveillance and treatment of familial LPL deficiency may help to manage some of the symptoms and sometimes prevent related problems. Methods: Clinical genetic testing for familial lipoprotein lipase deficiency may be available through an in person genetic consultation for children who are considered at risk. Triglycerides and total cholesterol were measured using commercially available kits (Boehringer Mannheim). Results: Episodes of abdominal pain are common. Intensity, duration, and localization of episodes are variable. Enlargement of the liver and spleen occurs particularly among affected infants and children. The enlargement of these organs may vary, often in parallel with the fat content of the diet. The risk is the same for boys and girls. Conclusions: Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body. It is characterized by absence of lipoprotein lipase activity and a massive accumulation of chylomicrons in plasma and a corresponding increase of plasma triglyceride concentration. Higher levels of plasma LPL activity are associated with decreased TG and increased HDL cholesterol levels in children.