What type of inheritance does Familial hypercholesterolemia exhibit?

Familial hypercholesterolemia is characterized by an elevated level of low-density lipoprotein (LDL) cholesterol in the blood, leading to an increased risk of cardiovascular disease. The mode of inheritance for this condition is autosomal dominant, meaning that only one copy of the mutated gene is sufficient to cause the disorder.

Autosomal dominant inheritance is marked by the fact that an affected individual has a 50% chance of passing the allele for the disorder to each offspring. In the case of familial hypercholesterolemia, mutations commonly occur in the LDL receptor gene, leading to impaired clearance of LDL from the bloodstream. This results in the accumulation of cholesterol and a higher risk of coronary artery disease, even at a young age.

The mechanisms underlying autosomal dominant conditions often include a gain of function or a dominant negative effect of the mutated allele. In familial hypercholesterolemia, the presence of even one mutated allele can significantly disrupt normal lipid metabolism, underscoring the importance of understanding this inheritance pattern.