What should you do if you have familial hypercholesterolemia?

A hereditary lipid metabolism disorder may occasionally be the cause of a significantly elevated cholesterol level. It can cause heart attacks and strokes, even in children. 

Familial hypercholesterolemia is an inherited form of dyslipidemia caused by elevated levels of LDL cholesterol in the blood. Treatment consists of diet and medication to lower the LDL level, and if not enough, LDL apheresis is possible.

Familial hypercholesterolemia is a hereditary disorder of lipid metabolism. The level of a certain blood fat, LDL cholesterol, rises to over 310 mg/dl, sometimes to two to ten times the normal value.

Lipoproteins transport cholesterol from the liver to various organs, while HDL transports cholesterol back from the organs and vessel walls. LDL transports cholesterol from the liver to the various organs, while HDL transports cholesterol back from the organs and vessel walls. However, increasing HDL with medication does not seem to have a positive effect.

Familial hypercholesterolemia is a hereditary form of hypercholesterolemia, which can be caused by a variety of factors.

Cause: Change in the LDL receptor gene

Familial hypercholesterolemia is caused by a mutation in the LDL receptor gene, which is an important prerequisite for LDL cholesterol to be able to get from the blood into the cells. Two other genes, ApoB and PCSK9, also have changes that lead to familial hypercholesterolemia. The genetically determined dysfunction of the LDL receptors can vary in severity, with patients particularly affected if no receptors are formed on the cells or if they are unable to bind LDL cholesterol. As a result, LDL cholesterol is increasingly deposited in various tissues, such as the walls of coronary arteries, carotid arteries, and the main artery (aorta).

Heterozygous and homozygous inherited familial hypercholesterolemia

Familial hypercholesterolemia is inherited in an autosomal dominant manner. This means that just one modified gene (either from the father or mother) is enough to cause the disease.

The heterozygous (non-homogeneous) form of familial hypercholesterolemia is one of the most common congenital metabolic diseases in humans, occurring in 1 in 300 to 500 people. In rare cases, both the mother and father pass on an altered gene to their child, resulting in two altered genes for the LDL receptor. This variant of familial hypercholesterolemia is associated with total cholesterol levels of over 500 to 1200 mg/dl, and is very serious. With a frequency of 1:1,000,000, the homocytogenic form is less common.

symptoms

Initial signs or discomfort from familial hypercholesterolemia are absent. The main cause of “hardening of the arteries,” however, is the increased LDL cholesterol that is circulating in the blood and is deposited on the vessel walls over time (arteriosclerosis). Arteriosclerosis, which narrows the vessels, causes circulatory issues in the affected organs. Serious side effects, like a heart attack, may result.

Externally, the lipid metabolism disorder may be noticeable through reddish to yellowish cholesterol deposits in certain areas of the skin, in tendons (xanthomas) and in the eyes (xanthelasma, arcus corneae).

The doctor suspects “familial hypercholesterolemia” when he or she finds high cholesterol levels in the blood and learns from the patient’s family history that close relatives have similarly high cholesterol levels. Fat deposits in the tendons, such as tendon xanthomas, raise the suspicion of familial hypercholesterolemia.

What are the LDL levels in familial hypercholesterolemia?

In the milder, heterozygous form of the disease, blood LDL-cholesterol levels range from 200 to 400 mg/dL, with triglyceride levels usually not elevated. In the rarer, severe, homozygous form, total cholesterol levels range from 500 to 1200 mg/dl.

The FH score is a diagnostic tool for diagnosing familial hypercholesterolemia. A genetic test (DNA analysis) is usually covered by the health insurance company, and if a corresponding gene change is detected, the diagnosis is confirmed. However, a change in the three previously known genes for hypercholesterolemia is only found in about 70% of people suspected of having familial hypercholesterolemia.

What to do in familial hypercholesterolemia?

Treatment of lipid metabolism disorders involves changing your diet and taking medication. Target values for LDL are usually between 50 and 100 mg/dl, depending on other risk factors. They are coordinated with the doctor.

Nutrition in familial hypocholesterolemia

• If you are overweight: reduce the calorie intake to match your actual needs and thus shed excess pounds.
• Consume less saturated (animal) fats and trans fats!
• Lower cholesterol intake.
• Slowly increase the amount of fiber in your diet.
• Eat lots of fruit and vegetables and one or two servings of fatty sea fish per week.
• Exercise regularly and incorporate more physical activity into your everyday life. 30 minutes of moderate effort 5 times a week would be a good goal.

Medication

Statins are the first choice of drug therapy for familial hypercholesterolaemia, as they block cholesterol formation and restore the liver’s LDL receptor function, reducing LDL levels. Treatment should begin in childhood.

Statins can be combined with ezetimibe and bempedoic acid to reduce LDL cholesterol. PCSK-9 antibodies and To begin include can also be used to reduce the breakdown of hepatic LDL receptors. PCSK-9 antibodies are injected under the skin every two to four weeks, while Inclisiran is only every six months.