What is HoFH?

Overview

Homozygous familial hypercholesterolemia (HoFH) is the most severe form of familial hypercholesterolemia. HoFH is caused by genetic defects inherited from both parents that affect the function of the low-density lipoprotein (LDL) receptor, the receptor responsible for removing LDL-C cholesterol (bad cholesterol) from the body. HoFH is characterized by extremely high levels of LDL cholesterol (LDL-C). HoFH is typically diagnosed by LDL-C levels, physical exam and family history.
 
National guidelines recommend LDL-C goals of less than 100 mg/dL (2.6 mmol/L) for patients at high risk for CVD and less than 70 mg/dL (1.8 mmol/L) for patients at very high risk.