Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder that involves abnormally high amounts of cholesterol in the blood, especially low-density lipoprotein (LDL). It affects approximately 1 in 1 million Americans. Because high LDL is one of many risk factors associated with heart disease, LDL is often called “bad” cholesterol. Patients with HoFH are unable to remove the bad cholesterol from the blood which increases their risk of strokes and heart diseases. Familial Hypercholesterolemia can be caused by inheriting different defects from each parent (heterozygous), or two copies of the same defect from both parents (homozygous). Homozygous patients and patients with multiple defects tend to experience more serious complications compared to patients with a single defect.
Without treatment, life beyond young adulthood is unlikely due to early-onset heart disease. Patients with HoFH must adhere to a strict low-fat diet in order to reduce risk of heart disease.
Physical examination, personal and family history, genetic testing, and blood lipid levels are crucial in diagnosing and managing HoFH.
Signs and symptoms of HoFH may include:
Current drug therapy for homozygous familial hypercholesterolemia available at Accredo includes: