Familial hypercholesterolemia

Hypercholesterolemia can be passed from parents to children with health risks. Learn to identify the symptoms and control the treatment.


When talking about cholesterol, what is known as familial cholesterol deserves a special mention. In this case, it is a genetic disease in which affected people produce excess cholesterol, regardless of their diet, with the consequent increase in cardiovascular risk. In Spain there are about 100,000 people affected. It is an lysosomal dominant genetic disease (only one affected gene suffices for the disease to occur) and more than 1,600 different mutations are involved.

  1. Symptoms of familial cholesterol
  2. Treatment of familial hypercholesterolemia

In general, there is a defect in the receptors of the LDL proteins that bind to cholesterol, responsible for eliminating it from the blood and depositing it in the liver. With fewer LDL receptors, cholesterol binds less to them, so they increase their blood levels by decreasing their fixation in the liver, so that cardiovascular risk rises .

Symptoms of familial hypercholesterolemia

It is precisely this high cardiovascular risk that makes it necessary for the diagnosis of familial hypercholesterolemia to be as early as possible. It is best to be before six years of age, given that cardiovascular events can occur before the age of 17 in men and before the age of 25 in women. It is estimated that more than 50% of people with familial hypercholesterolemia will suffer a cardiovascular health problem (angina pectoris, infarction) before 55 years of age.

When there is a family history of familial hypercholesterolemia, figures of total cholesterol> 200 mg / dl or LDL-cholesterol> 160 mg> / dl are diagnostic. If the affected person has both genes altered, can present very high cholesterol levels, sometimes higher than 500 mg / dl. The diagnosis of certainty will be genetic and should always rule out secondary causes such as hypothyroidism , kidney failure, diabetes, excessive alcohol consumption, liver failure, high-fat diet or the use of certain drugs.

Treatment of familial hypercholesterolemia

The treatment of familial hypercholesterolemia will always require the use of lipid-lowering drugs such as statins. In specific cases, it will be necessary to use special drugs called inhibitors of PCSK9 , an enzyme that is responsible for degrading the cellular receptors of LDL cholesterol, so that if it is inhibited there will be more receptors for LDL-cholesterol and it will be absorbed, reducing your blood levels.

Maintaining healthy habits is always recommended, but even more so if there is an alteration in cholesterol levels. If it is not a family cholesterol, before high cholesterol levels , it is essential for our cardiovascular health to be in the hands of our general practitioner.

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