Homozygous Familial Hypercholesterolemia

What Is Homozygous Familial Hypercholesterolemia?

Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited condition in which people have extremely high levels of cholesterol in their blood. This means that there are two copies of each gene for a specific condition, which is why it is referred to as homozygosity. Individuals with HoFH have LDL cholesterol levels that are two to three times higher than the average person, which can increase the risk of heart disease.

HoFH is caused by a change or mutation in a gene that increases the production of LDL cholesterol, which can build up on the walls of the arteries, leading to blockages and other cardiovascular problems. People with HoFH can also have high triglyceride levels. HoFH typically begins in childhood and results in a buildup of cholesterol in the body, resulting in potentially serious complications.

Symptoms and Complications of HoFH

The main symptom of HoFH is elevated cholesterol in the blood, as mentioned previously. Other symptoms can include abdominal pain, fatigue, and nerve pain in the hands and feet. HoFH can also lead to serious complications, such as:

  • Stroke
  • Heart attack
  • High blood pressure
  • Kidney issues
  • Heart failure
  • Artherosclerosis


HoFH can be difficult to diagnose, as the symptoms can be similar to other conditions. However, a blood test that specifically measures for total cholesterol levels can be an effective way to make a diagnosis. A doctor may also take into account a patient’s genetic history and look for other signs of the disease, such as the presence of certain gene mutations linked to HoFH.

Treatment Options

The primary focus of treatment for HoFH is to lower cholesterol levels and manage other symptoms such as abdominal pain and fatigue. Treatment options for HoFH may include lifestyle changes, such as a low-fat diet and regular exercise, as well as cholesterol-lowering medications. In addition, doctors may recommend specific drugs, such as statins and treatments like LDL apheresis. Occasionally, surgery may also be recommended.