Hyperlipoproteinemia, type 3
Targeted mutation analysis
| Genes: | APOE |
| Lab method: | Sanger sequencing |
| No of detectable markers: |
2 |
| TAT: | 2 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
200 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Personal or family history of premature coronary artery disease
3. Carrier testing for known familial mutations
4. Characteristic findings such as xanthomas
5. Genetic counseling
Hyperlipoproteinemia, type 3 (HLP3) is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride-rich lipoproteins such as very low density lipoproteins and chylomicrons. High levels of these remnants promote lipid deposition in tuberous xanthomas, atherosclerosis, premature coronary artery disease, and early myocardial infarction.
HLP3 is caused by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene.
Environmental and/or additional genetic factors must also be required for development of the disorder, because remnant particles accumulate in about one in 5000 individuals, although the gene defect affects about 1% of the population.
References:
Blum CB 2016. Type III hyperlipoproteinemia: still worth considering? Prog. Cardiovasc. Dis. 59: 119-124, 2016. [PubMed: 27481046]
Brown et al 1981 Regulation of plasma cholesterol by lipoprotein receptors. Science 212: 628-635. [PubMed: 6261329]
Brunzell JD 2009. Genetic Dyslipidemia. Clinical Lipidology. A Companion to Braunwald’s Heart Disease 2009, Pages 71-84
Hopkins et al 2014. Hyperlipoproteinemia Type 3: The Forgotten Phenotype. Current Atherosclerosis Reports, 16(9).doi:10.1007/s11883-014-0440-2
Reckless JPD and Lawrence JM 2003 Hyperlipidemia. Encyclopedia of Food Sciences and Nutrition (Second edition)