Non-familial hypercholesterolemia

Non-familial Hypercholesterolemia (NFHC)

Non-familial hypercholesterolemia (NFHC) is a rare genetic disorder characterized by abnormally high levels of low-density lipoprotein cholesterol (LDL-C) in the blood. People with NFHC have a significant risk of developing heart disease, stroke, and other cardiovascular diseases due to their abnormally high LDL-C levels. NFHC is caused by mutations in several genes, and treatments include medications to reduce cholesterol levels and lifestyle changes to control risk factors for cardiovascular disease.

The signs and symptoms of NFHC vary depending on the type of mutation a person has. Common signs and symptoms of NFHC include:

  • High cholesterol levels in the blood
  • High levels of triglycerides, a type of fat, in the blood
  • Heart or artery disease, including heart attack or stroke
  • Peripheral artery disease, in which fatty deposits build up in arteries of the legs and feet
  • High blood pressure
  • Fatty deposits in the skin, called xanthomas

NFHC is diagnosed through genetic testing which can detect the specific mutations associated with NFHC. Doctors may also order tests to measure cholesterol and other fat levels in the blood, such as a lipid profile. In some cases, imaging tests may be used to detect fatty deposits in the blood vessels.

Treatment for NFHC includes lifestyle changes such as diet and exercise, and medications to reduce cholesterol levels. It is important to note that lifestyle changes and medications only reduce the risk of cardiovascular disease, and do not cure NFHC. As such, people with NFHC should be monitored by their doctor for signs and symptoms of cardiovascular disease.