Heterozygous Familial Hypercholesterolemia

Heterozygous Familial Hypercholesterolemia (FH) is a genetic disorder that is an inherited disorder in which the body is unable to properly process cholesterol due to a gene mutation. It is the most common type of inherited high cholesterol, and is caused by a genetic mutation in the low-density lipoprotein (LDL) receptor gene.

FH is usually inherited from one parent, although each child has a 50% risk of inheriting the mutated gene. It is a lifelong condition that is present from birth, but it may not be diagnosed until adulthood. People with FH have an increased risk of developing cardiovascular disease at an early age.

Common symptoms of FH include:

High levels of LDL cholesterol (bad cholesterol)
High cholesterol levels from an early age, or in childhood
Elevated levels of other lipids, such as triglycerides
Family history of early coronary artery disease (CAD)

The best way to diagnose FH is by having a blood test that measures the levels of lipid levels in the blood, including LDL cholesterol, total cholesterol, and triglycerides. Genetic testing may also be recommended to confirm a diagnosis.

Treating FH usually involves lifestyle changes such as eating a heart-healthy diet, limiting saturated fat and dietary cholesterol, getting regular physical activity, and quitting smoking, if applicable. It is also important to maintain a healthy weight. In addition, medications such as statins may be prescribed to help lower cholesterol.

Untreated FH can lead to heart attack and stroke at an early age, so getting diagnosed early is important. If you have been diagnosed with FH, it is important to work with your healthcare provider to ensure you are doing everything possible to keep your cholesterol at healthy levels.