Medicina Molecular e Genética

Genetic Screening for Inherited Familial Hypercholesterolemia in Cardiovascular Organ Transplants

Abstract

Krista Ritchie*

Familial hypercholesterolemia (FH) is an inherited condition that causes high levels of low-density lipoprotein cholesterol (LDL-C) in the blood. The condition is caused by mutations in genes responsible for regulating the metabolism of cholesterol in the liver. FH affects approximately 1 in 200 people worldwide, and is associated with a higher risk of premature cardiovascular disease (CVD), such as heart attacks and strokes. Heart transplantation is a life-saving procedure for patients with severe heart disease, but it is not without its risks. In particular, heart transplant recipients are at an increased risk for CVD, including accelerated atherosclerosis, which can lead to transplant failure and death. FH is a significant risk factor for accelerated atherosclerosis in heart transplant recipients, and managing cholesterol levels in these patients is critical to their long-term outcomes.