Familial Hypercholesterolemia

📋Overview

This genetic disorder results from mutations that impair the body's ability to clear low-density lipoprotein cholesterol from the blood. Because the condition is present from birth, it can lead to an early accumulation of cholesterol in the arteries, which may increase the risk of cardiovascular issues over time.

The condition is typically passed through families in an autosomal dominant pattern and is categorized into heterozygous or homozygous forms depending on the number of inherited gene mutations. These genetic variations specifically affect the function of receptors or related pathways responsible for regulating cholesterol levels.