Lipoprotein lipase (LPL) hydrolyzes triglyceride (TG) from TG-rich lipoproteins. Through its action TG-rich lipoproteins are converted to LDL, and the redundant surface material is incorporated into HDL. LPL deficiency is a rare disorder, which results in severe chylomicronemia, pancreatitis, eruptive xanthomas, and neurological symptoms. Several mutations in the LPL gene lead to LPL deficiency. Missense mutations in exon 5 are the most common causes of LPL deficiency (at amino acid positions 176, 188, 194, 205, 207). Furthermore, several nonsense mutations, frameshift mutations or small insertions/deletions have been described. Of mutations reducing LPL activity, Asn291Ser in exon 6 is the most common mutation (2-5% in Caucasian populations). Heterozygous LPL mutations associated with a reduction or loss of LPL activity may increase the risk of familial combined hyperlipidemia (FCHL). Ser447Stop is found in up to 20% of the general population and it is the only variant associated with increased LPL activity.
The analysis is performed from a whole blood sample (EDTA). Instructions for storage and sending the sample as well as prices for DNA screening are given in the request form. The report and interpretation of the results are mailed to the address given in the order 6-8 weeks after the arrival of the blood sample.