The protein product, an intravascular enzyme, degrades very low density lipoproteins and chylomicrons. A deficiency in this enzyme activity results in chylomicronaemia or hypertriglyceridaemia.
The frequency of homozygous LPL deficiencies is 1:1,000,000.
The size of LPL gene is about 30kb. This gene is located on chromosome 8 (8p22). The gene has 10 exons.
The clinical signs of lipoprotein lipase deficiency and apolipoprotein C2 defects are identical. Biochemically a hyperlipoproteinemia type I can be considered in homozygous state. In heterozygous state there is rather a mixed hyperlipidemia evident. That can be type V according to classification of Fredrickson. There is often recurrent pancreatitis seen in these patients. The skin may show xanthomas.
The l Lipoproteinlipase is a glycosylated enzyme. It is produced by adipocytes and secreted into blood stream. Its function is lipolytic degradation of triglycerides in triglyceride rich lipoproteins. The important cofactor on these lipoproteins is Apolipoprotein C2.
Patients with excessive triglyceridemia and/or recurrent pancreatitis.
This test is appropriate to confirm lipoprotein lipase deficiency. This is much more easily to perform than direct measurement in plasma. In combination with apolipoprotein C2 testing it is even a much more reliable test for insufficient lipoprotein degradation. The patients have to be treated with a strong regiment of fat free diet.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
Chylomicronemia | ||||
ABCA1 | ||||
ABCG5 | ||||
APOA5 | ||||
APOC2 | ||||
APOE | ||||
Chylomicron retention disease | ||||
SAR1B | ||||
GPIHBP1 | ||||
LCAT | ||||
LIPA | ||||
LIPC | ||||
LMF1 | ||||
LPL | ||||
SAR1B | ||||
Combined familial hyperlipidemia with dysfunctional VLDL metabolism | |||
ANGPTL8 | |||
APOA1 | |||
APOA4 | |||
APOA5 | |||
APOC3 | |||
CETP | |||
GALNT2 | |||
LCAT | |||
LIPC | |||
LIPG | |||
LPL | |||
RXRG | |||
USF1 | |||
1. |
Benlian P et al. (1996) Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. |
2. |
None (1999) Drug treatment of lipid disorders. |
3. |
NCBI article NCBI 4023 |
4. |
OMIM.ORG article Omim 609708 |
5. |
Orphanet article Orphanet ID 123112 |
6. |
Wikipedia article Wikipedia EN (Lipoprotein_lipase) |