Heterozygous familial hypercholesterolemia is a condition that can cause your cholesterol levels to shoot up abnormally. It is a genetically inherited disorder that affects 1 out of every 500 people.

Heterozygous Familial Hypercholesterolemia

Caused due to a faulty gene, high levels of cholesterol over a period of time can damage the arteries- vessels that carry blood and oxygen from the heart to the rest of the body. HeFH increases the risk of heart disease and stroke at a very young age.

HeFH is mainly caused by a change in the gene mutation that makes it tougher for the body to remove LDL cholesterol from the bloodstream. In white people, the chance may be as high as 1 in every 200.


HeFH causes your cholesterol levels to be elevated significantly. High levels of LDL results in plaque formation which narrows the blood vessels in the arteries and eventually results in hardening of the arteries.

Narrow blood vessels prevent adequate blood reaching the heart, plaque can break and get stuck in the blood vessels and block your heart, this may cause the heart muscles to die and results in a heart attack.

Elevated levels of cholesterol can lead to the formation of yellow or orange bumps under the skin called xanthomas. You might observe them in the hands, elbow, knees, heel and feet. When xanthomas are formed on the eyelids it is called xanthelasmas.

Cholesterol also gets deposited around the cornea -the cover over the front of your eye and condition is called corneal arcus, which looks like a silvery blue ring. It is seen as an arc around the eye, but it does not affect the vision.

Diagnosis And Treatment

Doctors generally recommend certain blood tests to diagnose heterozygous familial hypercholesterolemia which includes lipid profile and other gene-related blood tests. Doctors also examine the patients to look for any bumps under the knee, elbow, ankles and any yellow arc-like growth on the eye.

The main aim of treatment is to bring down the cholesterol levels and lower the risk of heart diseases. Lifestyle modifications play a crucial role in the treatment plan which includes:

Going for a low-fat diet and avoiding all saturated fats, processed foods, and red meat.

Moderate intensity exercises like swimming, jogging and walking improve the working of the heart.

Losing weight and quit smoking can also help to reduce cholesterol levels.

Certain cholesterol-lowering medications are also prescribed together with lifestyle modifications to treat HeFH.