E78.019

Clinical Causes: Genetic mutations passed from parents to children, affecting how the body processes cholesterol. Autosomal dominant inheritance, meaning only one copy of the altered gene is enough to cause the disorder. Family history of high cholesterol or early heart disease can increase the likelihood of having FH.

Key Symptoms: High levels of low-density lipoprotein (LDL) cholesterol, often from a young age. Presence of cholesterol deposits around the eyes (xanthelasma). Cholesterol firm deposits on tendons, especially around the Achilles tendons or elbows (tendon xanthomas). Increased risk of early cardiovascular disease, which may manifest as angina or heart attacks.

Diagnosis Path: Blood tests to measure cholesterol levels, particularly elevated LDL cholesterol. Family medical history assessment to identify inherited patterns. Genetic testing may confirm mutations linked to FH, though not always performed. Physical examination for visible cholesterol deposits or tendon xanthomas.

Treatment Protocols: Medications like statins to lower LDL cholesterol levels. Lifestyle changes including a heart-healthy diet, regular exercise, and smoking cessation. Lipoprotein apheresis in severe cases to physically remove cholesterol from the blood. Regular medical check-ups to monitor cholesterol levels and cardiovascular health. Family screening to identify and manage affected relatives.