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Familial hypercholesterolaemia is a genetic disease that is inherited regardless of gender. It is caused by a mutation of the LDLR gene, i.e. the gene responsible for the absorption of LDL cholesterol, commonly known as bad cholesterol.
Another genetically determined disease that leads to an excessive build-up of cholesterol in the blood is sitosterolemia (phytosterolaemia). The disease is considered ultra rare. Just over 40 cases of this disease have been described in the medical literature. It is known that the disease is caused by mutations in the ABCG8 and ABCG5 genes. Like hypercholesterolaemia, the disease is ancestral but autosomal recessive (regardless of gender; both parents must pass the defective gene to the child for the disease to manifest itself). When diagnosing people with high cholesterol, other disorders of the lipid metabolism in the body are also often distinguished. — Probe 15348 | 300px | 2—
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These diseases are caused by defects in enzymes responsible for the proper metabolism of lipids. Stands out:
- hypercholesterolemia, i.e. elevated levels of total cholesterol in the blood,
- hypertriglyceridemia – too high concentration of TG triglycerides,
- mixed hyperlipidaemia – when both types of fat are excessively concentrated in the blood.
Familial hypercholesterolaemia and cholesterol
The average person is born with a low concentration of LDL cholesterol – about 30 mg / dl, and this amount is enough to properly fulfill all physiological tasks. However, from childhood onwards, blood cholesterol levels begin to rise. Obesity has little to do with high LDL cholesterol. Systemic diseases, such as hypertension, diabetes, liver and kidney diseases, acute hemorrhagic pancreatitis and hypothyroidism, have a significant influence on high cholesterol.
Familial hypercholesterolaemia, or hereditary high blood cholesterol, leads to the early development of atherosclerosis. If children inherit this tendency from both parents, they may develop atherosclerosis as early as childhood. Fortunately, there are not many such people – one in a million population, that is, for example, about 40 people in Poland. Familial hypercholesterolaemia is more often inherited from one parent. One in 500 of the population has this figure. Thus, there are about 75 people genetically burdened with this disease in Poland. Symptoms of atherosclerosis usually appear in them in the 000-3 decade of life.
Familial hypercholesterolaemia – symptoms
People with hereditary high cholesterol levels often develop yellows, also known as patches of yellow, around the eyes or elsewhere on the skin. These are cholesterol deposits. In addition to the flat yellows that appear on the eyelids at the base of the nose, there may also be deposits in the Achilles tendon. Sometimes they take the form of a tumor located under the skin. Another symptom of the disease is the senile limb of the cornea and enlargement of the liver. However, the most dangerous symptom of hypercholesterolaemia is atherosclerosis and ischemic heart disease.
The consequence of atherosclerosis is a heart attack or stroke, even in very young people, sometimes before the age of 30.
Test for hypercholesterolaemia
The most important test that can confirm hypercholesterolaemia is a blood test and determination of the complete lipid profile. An abnormal lipid profile, indicative of disease, is one where all cholesterol fractions, except HDL, are well above established standards. Total cholesterol (normal up to 200 mg / dl) often reaches values above 350 mg / dl. LDL is also significantly higher than expected by the norm, i.e. up to 115 mg / dl.
Treatment of familial hypercholesterolaemia
Familial hypercholesterolaemia is not easy to fight with diet and physical activity. Such a procedure is effective when too high blood cholesterol is caused by an unhygienic lifestyle and a diet rich in animal fats. Fortunately, however, most people with hypercholesterolaemia can be offered a statin by doctors. These are drugs that strongly lower LDL cholesterol, inhibiting its formation in the liver.
The effect of statins is difficult to overestimate because the lower the LDL concentration, the lower the risk of a heart attack. It is worth adding that this applies not only to the first heart attack, but also to subsequent ones. Patients who have not yet had a heart attack should also take statins in cases of congenital high cholesterol levels, when there is a risk of atherosclerosis and coronary artery disease from childhood. The dose of the drug should be adjusted flexibly, depending on the patient’s needs, so that the LDL level should be less than 100 mg / dl, and the total cholesterol level within 175 mg / dl. Simplifying the problem, it can be said that the higher the LDL concentration, the greater the dose of statins is needed. The doctor should make the patient aware of this, explain the purpose of taking statins and modern drugs that reduce LDL concentration.
In some clinics around the world, with a very high concentration of LDL, patients are mechanically removed from the blood of bad cholesterol fractions. The treatment consists in filtering the serum. It is rarely done because it is expensive.
Proper statin therapy allows up to 50 percent. reduce the risk of having a heart attack, but that doesn’t mean you can prevent everyone from having it.
The Pfizer-approved WHO scoring test is used to diagnose familial hypercholesterolaemia. It is worth asking your GP to complete this test as it makes diagnosis much easier.