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.