What Causes Homozygous Familial Hypercholesterolemia?

Homozygous Familial Hypercholesterolemia is a serious medical condition seen in children who have abnormally high LDL cholesterol right from the time of birth.^{(1, 2)} This happens when the body is not able to completely eliminate cholesterol from the body. It increases the risk of cardiovascular diseases in these children suffering from Homozygous Familial Hypercholesterolemia at a very young age. Abnormally high levels of cholesterol result in clogging of arteries, which affects the delivery of oxygen to and from the heart and different parts of the body. If appropriate treatment is not given to children with Homozygous Familial Hypercholesterolemia, then they tend to end up with a cardiovascular disease by the time they are 30 to 40 years of age.⁽²⁾

Unfortunately, there is no cure for Homozygous Familial Hypercholesterolemia⁽³⁾; however, with medications and dietary restrictions, the cholesterol levels can be controlled and the individual can more or less need a normal life.⁽³⁾ In some cases, the initial treatment for Homozygous Familial Hypercholesterolemia may not be effective and the physician may have to try out different drugs until a drug that best suits the patient can be arrived at.

In extreme cases, a liver transplant may be required for treatment of Homozygous Familial Hypercholesterolemia.⁽³⁾ This is because it is this organ (liver), which clears off cholesterol and liver dysfunction is a major cause of Homozygous Familial Hypercholesterolemia. Liver Transplant is a major surgery and requires a prolonged recovery time. This article highlights some of the causes of Homozygous Familial Hypercholesterolemia.

Homozygous Familial Hypercholesterolemia is an inherited medical condition.⁽⁴⁾ This means that a child is born with this condition. Homozygous Familial Hypercholesterolemia is an autosomal recessive trait meaning that two copies of the defective gene one from each parent is needed for a child to get this condition.⁽⁵⁾ The liver is responsible for elimination of the LDL or the “bad” cholesterol. The liver does it by utilizing LDL receptors. These receptors bind to the LDL cholesterol and remove them from the body. In a child with Homozygous Familial Hypercholesterolemia, the LDL receptors do not function normally and are not able to bind to the LDL cholesterol in the blood. This leads to build up of cholesterol levels. In some cases only one defective gene gets inherited, then it results in a similar medical condition referred to as Heterozygous Familial Hypercholesterolemia.⁽⁵⁾ This form of hypercholesterolemia is less severe than the homozygous form.

In summary, Homozygous Familial Hypercholesterolemia is an autosomal recessive inherited condition resulting in abnormally high cholesterol levels in a child right from the time of birth. This condition arises when two copies of the defective gene, one from each parent is inherited. It results in the child having abnormally high levels of cholesterol in the blood. Under normal circumstances, the ideal levels of cholesterol should be below 200 mg/dL; however, in children with Homozygous Familial Hypercholesterolemia, these levels touch 600 mg/dL. This increases the likelihood of the patient to have a cardiovascular disease at very young age. While there is no cure for Homozygous Familial Hypercholesterolemia; medication and lifestyle modifications are of paramount importance in keeping the cholesterol under control and delaying the onset of any complications that may arise due to Homozygous Familial Hypercholesterolemia.

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• What Are The Presenting Features Of Homozygous Familial Hypercholesterolemia?