What is recognized as the #1 autosomal dominant disorder in the U.S.?

Familial hypercholesterolemia is recognized as a significant autosomal dominant disorder in the U.S. and is characterized by elevated cholesterol levels, which lead to an increased risk of cardiovascular disease. This condition arises from mutations in the LDL receptor gene, resulting in poor clearance of low-density lipoprotein (LDL) from the bloodstream. Individuals with familial hypercholesterolemia can inherit one copy of the mutated gene from an affected parent, leading to high cholesterol levels from a young age.

The substantial health implications associated with familial hypercholesterolemia, including early onset heart disease, underscore its impact on public health. Effective management often requires a combination of lifestyle changes and pharmacologic interventions to lower cholesterol levels and mitigate cardiovascular risk.

In contrast, while Huntington's Disease, Marfan Syndrome, and Neurofibromatosis are all notable autosomal dominant disorders, familial hypercholesterolemia is particularly prevalent in discussions of autosomal dominant conditions affecting cholesterol metabolism and cardiovascular health.