Heterozygous Familial Hypercholesterolemia (HeFH)

Heterozygous Familial Hypercholesterolemia (HeFH) is an inherited disorder of elevated cholesterol levels in the blood, caused by a mutation in the LDL receptor gene. Depending on the exact mutation, it can have even more serious consequences for those affected by high cholesterol levels, including a higher risk of developing cardiovascular and coronary heart diseases, stroke and other conditions.

Symptoms of HeFH can include:

High cholesterol levels in the blood (above 240 mg/dL)
High levels of LDL or “bad” cholesterol (above 160 mg/dL)
Low levels of HDL or”good” cholesterol (below 40 mg/dL)
An accumulation of cholesterol build-up in arteries, called fatty streaks
Elevated triglycerides in the blood (above 200 mg/dL)

Managing HeFH requires lifestyle changes such as eating a low-fat diet, exercising regularly, and quitting smoking. In addition, medications such as statins, fibrates, and resins may help lower cholesterol levels, decrease the formation of fatty streaks, and reduce the risk of heart attack or stroke.

It is important to remember that HeFH is a lifelong condition, and requires monitoring of your cholesterol and other risk factors regularly. A combination of diet, exercise, and medication can help you manage the condition and reduce your risk of developing serious complications.