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How to Treat Homozygous Familial Hypercholesterolemia?

About Homozygous Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia refers to an inherited medical condition in which a child has abnormally high levels of LDL cholesterol right since the time of birth.(1) Homozygous Familial Hypercholesterolemia affects the ability of the body to eliminate cholesterol from the body. This increases the risk of the patient to have cardiovascular disease at a very young age. Cholesterol results in the clogging of the arteries, which impacts the smooth blood flow of oxygen to and from the heart to other parts of the body.(2) An individual with Homozygous Familial Hypercholesterolemia will end up having a heart disease by the time he or she is around 40 years of age.(3) Apart from having high levels of cholesterol, an individual with Homozygous Familial Hypercholesterolemia will also have yellow patches called xanthomas on the skin surface around the elbows, knees and legs.(3) This article highlights some of the treatment options for Homozygous Familial Hypercholesterolemia. How to Treat Homozygous Familial Hypercholesterolemia?

How to Treat Homozygous Familial Hypercholesterolemia?

Unfortunately, there is no cure for Homozygous Familial Hypercholesterolemia.(4) The treatment for Homozygous Familial Hypercholesterolemia is aimed at controlling the cholesterol levels as much as possible and decreasing the chances of a cardiovascular disease.(4) This is done through a variety of medications. There may not be much success during the initial phase of treatment for Homozygous Familial Hypercholesterolemia as physicians may try different medications until they arrive at a treatment which best suits the patient. Additionally, the patient also has to be on dietary restrictions throughout the life for management of Homozygous Familial Hypercholesterolemia. Statins for Treating Homozygous Familial Hypercholesterolemia(4): To begin with the treatment of Homozygous Familial Hypercholesterolemia, the patient will be started on high dose statins since the cholesterol levels in people with Homozygous Familial Hypercholesterolemia is extremely high. Statins work by preventing production of cholesterol in the liver. Statins may be tried alone or in combination with other medications that reduce cholesterol levels. The most preferred drug of choice for decreasing cholesterol levels is Zetia. Some of the preferred statins that are used to treat a condition like Homozygous Familial Hypercholesterolemia are Colestid and Welchol. Treatment of Homozygous Familial Hypercholesterolemia with Apheresis(4): In case if medications are ineffective in controlling the cholesterol levels in Homozygous Familial Hypercholesterolemia, then a procedure called apheresis is done. This procedure is somewhat similar to dialysis in that the procedure involves removal of cholesterol from the blood. Apheresis is done by removing the blood from a catheter and the cholesterol is removed and the blood is then returned back to the body. This procedure is done in an in-patient setting and the patient needs to be admitted to the hospital. Apheresis needs to be done regularly to keep the cholesterol levels in check. Liver Transplant for Treating Homozygous Familial Hypercholesterolemia(4): In case even if the above treatment for Homozygous Familial Hypercholesterolemia proves ineffective in controlling the condition, then the physician will recommend liver transplant as a last resort. It is the liver that has the responsibility to eliminate the LDL cholesterol from the blood. A patient will be deemed a candidate for a liver transplant based on the overall age and health status. It normally takes up to a year to find a donor for liver transplantation. Post-transplantation the patient will require continuous monitoring and medications to prevent rejection of the new organ by the body. In addition to all the medical treatments that a patient with Homozygous Familial Hypercholesterolemia has to undergo, lifestyle and dietary modifications are also of equal importance. The patient is recommended to take plenty of fruits and vegetables, nuts, legumes, and low fat dairy. It is highly recommended to avoid food products that contain red meat, butter, palm oil, coconut oil, whole milk and egg yolks as these are forms of fats. Additionally, the patient needs to avoid processed foods and fast foods like pizza and burgers as these are detrimental to the overall cholesterol levels. Coming to lifestyle changes, avoiding nicotine and alcohol is recommended and exercising at least an hour a day is a must for individuals with Homozygous Familial Hypercholesterolemia.


In summary, Homozygous Familial Hypercholesterolemia is an autosomal recessive inherited medical condition causing abnormally high levels of cholesterol in the blood. Homozygous Familial Hypercholesterolemia is a serious medical condition and does not have a cure. The treatment for Homozygous Familial Hypercholesterolemia is aimed at controlling cholesterol levels through medications and dietary restriction. Medications generally used for treating Homozygous Familial Hypercholesterolemia include high doses of statins and other cholesterol lowering medications, which either can be used alone or in combination. Patients with Homozygous Familial Hypercholesterolemia also are advised to eat a low fat diet and avoid processed foods, nicotine, and alcohol to prevent cholesterol from going out of control and significantly increase the risk of a cardiovascular disease.


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Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:July 27, 2021

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