Everything about Familial Hypercholesterolemia

familial hypercholesterolemia

The familial hypercholesterolemia is an inherited disease by which the cholesterol level in the blood is abnormally increased. The consequences are severe disorders of the blood and circulatory system. Treatment is medicated and supported by a healthy lifestyle.

What is familial hypercholesterolemia?

According to wholevehicles.com, familial hypercholesterolemia is the genetic increase in the level of cholesterol in the blood. The prefix hyper- means “over” and the suffix –emia stands for “blood”; Hypercholesterolemia therefore means something like: oversupply of cholesterol in the blood.

Cholesterol is an important building block in the body. It is involved in various physical processes; among other things on the hormone production and the energy balance. Cholesterol is both produced in the body and taken in with food. In familial hypercholesterolemia, the metabolism is disturbed, which means that there is far more cholesterol in the body than is healthy.

One differentiates between different forms. In polygenic familial hypercholesterolemia, it is not only the genes that increase cholesterol, but also the lifestyle and diet. The monogenic familial hypercholesterolemia is purely hereditary. It is divided into heterozygous and homozygous familial hypercholesterolemia, depending on whether only one parent (heterozygous) or both parents (homozygous) inherited the genetic change.


Familial hypercholesterolemia is caused by a change in the genes that are responsible for the metabolism of cells and specifically for the absorption of LDL cholesterol. These so-called LDL receptors absorb cholesterol, which is produced by various organs, from the blood into the cells.

In familial hypercholesterolemia, a disorder causes the LDL receptors to be unable to draw enough cholesterol from the blood. As a result, it attaches to the blood vessels and gradually leads to arteriosclerosis, that is, to calcification of the vessels.

If the genetic change is inherited from only one parent, the disruption is much smaller, as there are more functioning LDL receptors. If the homozygous form is present, in which both father and mother have passed on the modified gene, the lipid metabolism is disrupted to a much greater extent and massively increased cholesterol levels occur.

Symptoms, ailments & signs

Initially, there are no symptoms of familial hypercholesterolemia. Often, however, a very high total cholesterol level is measured in young people as a result of a chance finding. However, the affected people develop the typical symptoms of arteriosclerosis at an early stage. The appearance of a large number of xanthomas and xanthelasma indicates a high concentration of cholesterol in the blood.

Xanthomas are yellowish deposits of plaques in the skin. They appear as yellowish skin changes that can take various forms. In xanthelasma, the yellowish deposits are found in the tissue of the upper and lower eyelids. The arteriosclerosis is developing very quickly and often leads already in adolescent sufferers to high grade vasoconstriction and vascular occlusion even the heart attacks cause or strokes.

In addition to cardiovascular diseases, the kidneys are also often damaged. Another frequently occurring symptom of familial hypercholesterolemia is a ring- to arched degeneration of the cornea, which is also referred to as an old man’s arch or arcus senilis. The arcus senilis usually occurs from the age of 80 years.

In familial hypercholesterolemia, even young people show this feature. Overall, the life expectancy of those affected is greatly reduced by the vascular occlusion and the complications that result from it. Even with the maximum possible lipid-lowering therapy, those affected only reach an average age of around 33 years.

Diagnosis & course

Young people with familial hypercholesterolemia usually have no symptoms and so the disease often goes undetected at first. The danger here is that the increased cholesterol level does not yet cause any noticeable symptoms, but still causes damage to the body.

The hardening of the arteries begins unnoticed and progresses steadily. Fat is stored in the vessel walls. The diameter of the vessels becomes smaller and smaller, which leads to an obstruction of the blood flow. When the blood supply is reduced, it results in a poorer supply to the organs and the entire body. Depending on which vessels are affected, the consequences can be angina pectoris (heart attack) and myocardial infarction, vascular occlusions in the legs with the development of a so-called smoker’s leg and a stroke.

Cholesterol can build up in the skin and lead to yellowish nodules, usually on the eyelids and between the fingers. To diagnose familial hypercholesterolemia, blood is taken from the patient and the values ​​of cholesterol and triglycerides are determined. Cardiovascular functions and the general condition of the body are also checked. A genetic test can show the presence of familial hypercholesterolemia.


Since high cholesterol often causes no symptoms, familial hypercholesterolemia often goes unnoticed. This leads to progressive hardening of the arteries, which impedes blood circulation. Complications from vascular narrowing or occlusion (angina pectoris, heart attack, stroke) are possible at any age.

If the homozygous form of the hereditary disease is present, fatal heart attacks can occur in early childhood. In heterozygous familial hypercholesterolemia, the time at which cardiovascular complications first occur varies greatly. If there are other risk factors, an early manifestation before the age of 30 is possible. Cardiovascular problems often only show up after the age of 50 or 60.

Familial hypercholesterolemia is usually treated with cholesterol-lowering drugs (statins). As a common side effect, in addition to an increase in liver values, there is also the risk of diabetes mellitus. With lipid apheresis (blood washing) there is a risk of acute and long-term complications.

Side effects that may occur during therapy are headache, dizziness, tiredness, drop in blood pressure or edema. Iron deficiency anemia is a possible long-term consequence of the treatment. Haemolysis, allergic reactions and shock are very rarely observed as serious complications of blood washing.

When should you go to the doctor?

With this disease, a visit to a doctor is always necessary. The symptoms of the disease can, however, be limited relatively well by a healthy lifestyle with a healthy diet. An early diagnosis can have a very positive effect on the disease. A doctor should then be consulted if the person concerned suffers from excessive fat deposits under the skin.

Heart problems or circulatory disorders can also indicate this disease and should be investigated. A blood test may also indicate high cholesterol levels. Smokers in particular should therefore take part in regular examinations in order to detect the disease at an early stage.

In most cases, this condition can be diagnosed by a general practitioner or an internist. Further treatment depends largely on the severity of the symptoms and is carried out by different specialists. In acute emergencies, blood washing can also be carried out if the cholesterol level is very high. In addition to a healthy diet, those affected depend on taking medication to reduce or completely limit the symptoms of this disease.

Treatment & Therapy

The aim of the therapy for familial hypercholesterolemia is to lower the cholesterol level in the blood again and to keep it within a normal range. For this purpose, drugs are administered which, on the one hand, inhibit the body’s own production of cholesterol and, on the other hand, increase its absorption from the blood into the body cells.

If there is a very massive increase, blood washing outside the body is sometimes used to lower the cholesterol. In addition to these medical treatments, the patient himself must also contribute to improving the values by changing his lifestyle and diet.

The diet should be low in fat and healthy, i.e. lots of fruit and vegetables, little lean meat and fish. Sufficient exercise and light sport support the therapy. Since familial hypercholesterolemia is genetically determined, treatment must consist of medication and a change in diet. Diet alone would not be enough for this form of the disease.

Outlook & forecast

The genetic disorder is not curable according to the current possibilities. Due to legal requirements, scientists and medical professionals are not allowed to make changes to human genetics. As a result, the familial hypercholesterolemia cannot be cured.

The disease is treated symptomatically. The complaints can be well regulated, which leads to a significant improvement in health. The symptoms can be alleviated through the administration of medication. The cholesterol level is regulated and the symptoms are reduced. The patient has to undergo lifelong therapy for this, as the symptoms regress immediately when the medication is discontinued.

The prognosis of the disease can be significantly influenced by the person affected. With a healthy lifestyle and good nutrition, a positive course of the disease can be recorded. Sports activities, the avoidance of harmful substances and the control of food intake must be well coordinated so that the cholesterol level does not get too high. If the person concerned manages to exercise the necessary care, he will experience a significant improvement in health and improve his quality of life.

In familial hypercholesterolemia, it must be taken into account that cardiovascular disorders often develop in patients aged 50 and over. This process has a negative impact on the overall forecast.


Since familial hypercholesterolemia is genetically caused, it cannot be prevented. The increased cholesterol levels also arise with a healthy lifestyle. However, if you know that you are affected by familial hypercholesterolemia, you should have your children examined for the disease in order to be able to treat early and avoid serious damage.


Since familial hypercholesterolemia is a genetic disease, regular follow-up care should be sought. The patient must have regular blood tests at the family doctor to check the level of fats in the blood. If this continues to increase, the medication should be stopped again, for example by increasing the dose of statins or switching to fibrates or other medications.

The tolerability of the medication should also be inquired about. Furthermore, typical secondary diseases of a high cholesterol level should be investigated. This includes possible atherosclerosis, which poses a considerable risk for a heart attack or a stroke. For this purpose, regular ECG checks should be carried out by the doctor, and intervention should be made if there is the slightest suspicion.

Xanthelasma, i.e. deposits of cholesterol in the skin, can be removed for cosmetic reasons. These yellowish plaques do not represent a further risk. A further step in the follow-up care should be the examination of other family members, as the disease is passed on to them.

These should also be treated with medication if the disease is present and also come regularly for follow-up care. The relatives should also be informed about the risk of the disease and its consequences, as well as about the hereditary nature of the disease. If necessary, a genetic analysis should be carried out.

You can do that yourself

The genetically determined familial hypercholesterolemia is characterized by a pathologically increased level of LDL cholesterol in the blood, while the level of HDL cholesterol remains within the normal range. The increased LDL concentration has to do with pathologically altered LDL receptors.

They cause the LDL to stay longer in the blood, which is associated with the risk of the LDL being deposited in the vessel walls. To reduce the risk of developing arteriosclerosis or coronary heart disease in adolescence or early adulthood, medication to lower LDL levels is prescribed.

A self-help measure is adherence to a strict diet to support drug therapy to lower LDL levels. However, it is the case that around 70 to 80 percent of cholesterol is synthesized in the body cells themselves, in the intestinal mucosa and, above all, in the liver. A diet that also increases the concentration of HDL cholesterol is very helpful.

The risk of early coronary heart disease increases dramatically when high LDL cholesterol levels are accompanied by low HDL levels. The ratio of LDL to HDL is decisive. If possible, the quotient should not be higher than 3.5. Some cold-pressed types of oil with a high omega-3 fat content have a particularly beneficial effect on increasing the HDL value and thus reducing the risk of arteriosclerosis.

familial hypercholesterolemia