Hyperlipoproteinemia type IIa
Definition:
Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases.
References:
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[1]. Dick C Chan, et al. Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box. Metabolism. 2012 Jan;61(1):3-11. [Content Brief]
[2]. Ursula Kassner, et al. Clinical utility gene card for: hyperlipoproteinemia, TYPE II. Eur J Hum Genet. 2014 Jul;22(7). [Content Brief]
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