Cardiovascular Evaluation in Homozygous Familial Hypercholesterolemia Patients

Familial hypercholesterolemia is a serious genetic condition where the body has trouble handling cholesterol properly, leading to very high levels of "bad" cholesterol, known as LDL, in the blood. This can cause heart disease at an early age. The purpose of this study is to carefully examine the heart health of people with a severe form of this condition, where both copies of the gene are affected. This research aims to understand how heart disease progresses in these patients and to explore who might benefit from treatments like liver transplants or new genetic therapies. Understanding this can lead to better management and potentially life-extending treatments for affected individuals. The study involves regular heart check-ups using techniques that do not involve surgery or entering the body, which are called noninvasive methods. These assessments will be repeated over time to track changes in the heart's condition. By gathering detailed information on how the disease affects the heart, researchers hope to identify those who might experience significant improvements with advanced treatments. The study does not involve any experimental treatment, but instead focuses on collecting detailed data to inform future therapeutic decisions.