E78.010

Clinical Causes: Genetic inheritance: HoFH is caused by inheriting two defective genes responsible for managing cholesterol from both parents. Autosomal dominant disorder: The condition follows a genetic pattern where a single copy of the defective gene from each parent results in the disorder. Mutations in the LDLR gene: The most common genetic mutation involves the LDL receptor gene, which affects the body's ability to remove LDL cholesterol from the blood.

Key Symptoms: Very high levels of LDL cholesterol detected through blood tests. Presence of xanthomas—yellowish cholesterol deposits in tendons and skin, often on the elbows, knees, and Achilles tendons. Corneal arcus—a grayish or white ring around the cornea of the eye. Early onset of cardiovascular disease, such as heart attacks in adolescence or early adulthood. Children with HoFH may show signs of rapid cholesterol buildup, leading to notable physical features and health issues.

Diagnosis Path: Diagnosis involves blood tests to measure cholesterol levels and genetic testing to identify mutations in specific genes like LDLR. A family history of high cholesterol or early cardiovascular events can also influence the diagnostic process. Imaging studies may be used to assess the extent of arterial narrowing or blockages for individuals with symptoms of cardiovascular disease.

Treatment Protocols: Lipid-lowering medications: Statins, PCSK9 inhibitors, and other drugs to help reduce LDL cholesterol. Apheresis: A procedure similar to dialysis that filters excess cholesterol from the blood. Lifestyle modifications: Adopting a heart-healthy diet, engaging in regular physical activity, and avoiding smoking. Genetic counseling: Providing guidance for affected families to understand inheritance patterns and potential risks.