Familial Hypercholesterolemia: Where Do We Stand?

نویسندگان
Sadeghi, Masoumeh ID 1
Abhari, Amir Parsa ID 2
Karami, Dina ID 3
Adelparvar, Farzad ID 4

1 Cardiac Rehabilitation Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran

2 Isfahan Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran

3 Isfahan Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran

4 Isfahan Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran

doi
10.48305/arya.2023.16287.2488
چکیده

Familial hypercholesterolemia (FH) is a genetically inherited disorder of lipid metabolism characterized by elevated levels of circulating low-density lipoprotein-cholesterol (LDL-C). High levels of LDL-C are associated with an increased risk of premature atherosclerotic cardiovascular events, aortic stenosis, xanthelasma, tendon xanthomas, and corneal arcus due to lipid deposition in various tissues 1. This autosomal dominant disease, affecting 1 in every 311 to 313 individuals worldwide, is one of the most common genetic disorders and is considered a major source of disabilities, impaired quality of life, and even death 2, 3.

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