Lipoprotein lipase deficiency ... (Familial lipoprotein lipase deficiency) - Gen LPL.  

Lipoprotein lipase deficiency is an inherited disorder that disrupts the normal breakdown of fats in the body. Signs and symptoms of the disease include pancreatitis, abdominal pain, hepatosplenomegaly and skin xanthomas.

This process is due to mutations in the gene LPL, located on the short arm of chromosome 8 (8p22). This gene encodes an enzyme called lipoprotein lipase. This helps break down lipoproteins, that normally carry the fat molecules from the intestine into the bloodstream. Lipoprotein lipase removes fatty substances from two types of lipoproteins: chylomicrons and very low-density lipoprotein (VLDL). After a meal, chylomicrons are formed for transporting fat in the intestine into the bloodstream. Low density lipoproteins are molecules circulating in the blood, ferrying the fat and cholesterol from the liver to other tissues throughout the body. Lipoprotein lipase work with another enzyme (apolipoprotein C-II) to remove fats and VLDL chylomicrons. The breakdown of these particles released fat molecules for use as energy or for storage in adipose tissue.

They have identified more than 220 mutations in the LPL gene causing lipoprotein lipase deficiency family. The most common mutation replaces the amino acid glycine with glutamic acid amino acid at position 188 in the enzyme (Gly188Glu or G188E). Mutations in the LPL gene reduce or eliminate the activity of lipoprotein lipase, preventing the enzyme effectively remove fat chylomicrons. As a result, the blood accumulate in fat - laden chylomicrons, leading to abdominal pain and other signs and symptoms of the disease.

This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with lipoprotein lipase deficiency, by complete PCR amplification of exons LPL gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).