Dyslipidemias are a group of metabolic disorders characterized by any or a combination of the following: elevated low density liporpotein (LDL), elevated total colesterol (TC), elevated triglicerides (TGL) or low high density lipoprotein (HDL).The association between family history of dslipidemia and the risk of coronary artery disease is high. Atherosclerotic cardiovascular disease remains the leading cause of death worldwide.
Familial hypercholesterolemia (FH) is a common inherited autosomal disorder. Its frequency is estimated in 1:200. If untreated, increases the risk of premature cardiovascular disease.
Familiar Chylomicronemia is a recessive disorder which can be harmful due to the risk of pacreatitis. The most common gene affected is LPL which encodes the lipoprotein lipase. The disease can be suspected in infancy by a creamy appearance of the blood on routine blood draw or fingerstick that results from triglicerides accumulation secondary to decreased clearance of chylomicrons from the plasma. If the diagnosis is not made earlier, the disease often presents as severe abdominal pain from acute pancreatitis. Homozygous or compound heterozygous individuals who have absent or markedly reduced LPL activity typically have serum tryglycerides concentrations that can reach 10,000 or higher. In contrast, heterozygous carriers have normal to moderately reduced LPL activity, are usually asymptomatic, and may have mildly elevated fasting TG concentrations that can range from 200 to 750 mg/dL.
Why to perform genetic testing in cases with dyslipidemia?
- The disorder is known to have a genetic cause and effective drug therapy exist
- Genetic cascade screening in relatives is easy, accurate and a cost-effective way to identify patients and prevent cardiovascular disease
- The use of genetic test for early diagnosis allows early nutricional or pharmacologic interventions aiming to reduce the atherosclerotic disease, particularly in the young
Our Dyslipidemia panel test
ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LPL, PCSK9
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from the Familiar Dyslipidemia genetic test panel: The yield of the test is close to 80%
- Cascade screening for familial hypercholesterolemia: Practical consequences. Louter L, et al. Atheroscler Suppl.2017 Nov;30:77-85. doi: 10.1016/j.atherosclerosissup.2017.05.019.
- How Genomics Is Personalizing the Management of Dyslipidemia and Cardiovascular Disease Prevention. Banes LB. et al. Curr Cardiol Rep. 2018 Oct 17;20(12):138. doi: 10.1007/s11886-018-1079-3.
- Clinical and biochemical features of different molecular etiologies of familial chylomicronemia. Hegele RA, et al. J Clin Lipidol. 2018 Jul – Aug;12(4):920-927.e4. doi: 10.1016/j.jacl.2018.03.093
Download here interesting open access manuscripts on Dyslipidemia