Familial hypercholesterolaemia (familial hyperlipidemia) proves that high cholesterol is not always the result of dietary mistakes and lack of exercise. It may be caused by other diseases or - and not so rarely - by defects in the structure of one of the genes … What symptoms may indicate that we are dealing with high family cholesterol levels? How to Treat Hereditary High Cholesterol?

Contents:

  1. Familial hypercholesterolaemia (hyperlipidemia): causes
  2. Familial hypercholesterolaemia (hyperlipidemia): symptoms
  3. Familial hypercholesterolaemia (hyperlipidemia): diagnosis
  4. Familial hypercholesterolaemia (hyperlipidemia): treatment
  5. Treatment of hypercholesterolaemia - gene therapy and vaccine

Familial hypercholesterolaemia (family hyperlipidemia),that isdziedziczny high cholesterol levelis one of the most common inherited diseases caused by damage to a single gene.

It is estimated that about 200,000 people in Poland suffer from it, and from 14 to 34 million people worldwide. Its clinical picture includes the presence of high levels of total cholesterol and LDL-cholesterol in the family, as well as premature cardiovascular disease.

Familial hypercholesterolaemia (hyperlipidemia): causes

The cause of familial hypercholesterolaemia is not a poor diet or obesity. High cholesterol is caused by a defect in the gene responsible for the formation of the receptor for the LDL fraction, which is responsible for the transport of fatty compounds.

The way of inheritance causes the disease to affect up to 50 percent. family members and is passed down from generation to generation.

Instead of going where they are needed, that is, to the tissues of the muscles and adrenal glands, they remain in the blood vessels and start the atherosclerotic process.

If children inherit this disease from both parents, they may have atherosclerosis as early as childhood. Fortunately, there are few such people - one in a million. More often this tendency is inherited from one of the parents - this form is found in one in 500 people. Symptoms of atherosclerosis usually appear earlier in them, in 3-4 years. decade of life.

Familial hypercholesterolaemia (hyperlipidemia): symptoms

The symptoms of hereditary high cholesterol are rarely seen with the naked eye. In people who are hereditary with high cholesterol , hard, yellowish lumps may appear around the eyes and elsewhere on the skin - these are cholesterol deposits, the so-called yellow tufts. Tendon yellows also appear. Another symptom is the presence of a corneal limbus.

Familial hypercholesterolaemia (hyperlipidemia): diagnosis

- Familial hypercholesterolaemia is still a rarely diagnosed disease. Many affected people are not aware of their condition at all. Often, diagnosis and treatment begins only after complications, e.g. a heart attack or other forms of cardiovascular disease, have occurred - said Prof. Maciej Banach, President of the Polish Lipidology Society.

A WHO-approved scoring test is used for the initial diagnosis of hereditary hypercholesterolaemia. This is a kind of questionnaire that you complete with your doctor. It should be performed especially by young people in families with a history of heart attack, stroke or other cardiovascular diseases. On the basis of the test, it is possible to determine the probability of a genetic defect that causes an increased level of cholesterol, and thus - the risk of rapid development of atherosclerosis.

Familial hypercholesterolaemia leads to the rapid development of atherosclerosis, and thus the risk of heart attack and stroke.

In patients with suspected disease, the complete lipid profile should be determined, i.e. the concentration of total cholesterol (ChC), LDL cholesterol, HDL cholesterol and triglycerides (TG) in the blood. The diagnosis of hypercholesterolaemia is based on high levels of total cholesterol (ChC) and LDL cholesterol, with normal levels of HDL cholesterol and triglycerides. It is necessary to exclude other diseases that may increase the level of "bad" cholesterol in the blood, such as hypothyroidism, kidney disease and liver disease, or the use of certain drugs that raise LDL cholesterol levels.

Important

Total cholesterol above 230 mg / dl in a child, and in an adult above 310 mg / dl, while the patient or his / her family has premature coronary artery disease, tendon yellows or elevated cholesterol levels, should raise the suspicion of familial hypercholesterolaemia.

Familial hypercholesterolaemia (hyperlipidemia): treatment

Patients are strongly advised to avoid smoking, exercise (at least 30 minutes of physical effort at least 5 days a week - brisk walking,running or cycling), blood pressure should be less than 140/90 mmHg, and body mass index<25 kg/m2.

Patients should also follow a cholesterol-lowering diet.

The implementation of appropriate pharmacotherapy is of key importance in the treatment of familial hypercholesterolaemia. The drugs of choice are statins (drugs that effectively lower LDL cholesterol, inhibiting its formation in the liver) at the maximum tolerated dose.

There is individual variability in response to statin therapy that is associated with, inter alia, with the type of mutation of the LDL receptor. Although statins are currently the most potent lipid-lowering drugs available for many patients with familial hypercholesterolaemia, they will not achieve LDL-cholesterol targets on monotherapy.

In such cases, the maximum reduction in LDL-cholesterol levels should be achieved with the appropriate combination therapy at the highest tolerated doses: statin with a cholesterol absorption inhibitor (ezetimibe) or a bile acid sequestrant.

Read also: Diet for lowering cholesterol - what you can eat, menu

Important

Remember that patients with familial hypercholesterolaemia have a high risk of cardiovascular disease from early childhood.

This is whycascade diagnosticsis so important in the care of patients with familial hypercholesterolaemia, which allows you to detect subsequent cases from generation to generation.

Diagnosis and confirmation of the disease in one person allows for screening in the family, so that patients - including children from an early age - are provided with specialist care and counseling.

A very promising form of therapy for familial hypercholesterolaemia are new drugs from the group of subtilisin / kexin-9 proprotein convertase inhibitors (PCSK9 inhibitors).

In July 2015, the European Commission approved (evolocumab) the first monoclonal antibody in the treatment of adults with primary hypercholesterolaemia (heterozygous familial and non-familial) or mixed dyslipidemia as a dietary supplement:

  • in combination with a statin or a statin and other lipid-lowering drugs in patients unable to achieve the LDL-cholesterol target with the highest tolerated dose of statin
  • as monotherapy or in combination with other lipid-lowering drugs in patients who are statin intolerant or for whom statin use is contraindicated. In addition, the drug can be used in combination with other lipid-lowering drugs in adults and peopleyoung people over 12 years of age

This year also the Committee for Medicinal Products for Human Use at the European Medicines Agency recommended approval of the preparation (alirocumab) in Europe for the treatment of hypercholesterolaemia.

- Recently, there has been a breakthrough in the therapy of patients with uncontrolled cholesterol levels. A biological method has been found to control high cholesterol levels by blocking the so-called PCSK9 proteins through the use of monoclonal antibodies, says Prof. Maciej Banach, President of the Polish Lipidology Society.

- New drugs have appeared, the registration of which represents a huge progress in the fight against diseases of the cardiovascular system. New drugs are primarily hope for patients with familial hypercholesterolaemia - adds prof. Banach.

Worth knowing

The National Register of Patients with Family Hypercholesterolaemia has been operating and systematically developing at the Medical University of Gdańsk for 10 years. It allows for early diagnosis and prevention of premature deaths among people with familial hypercholesterolaemia in Poland. The creators of the registry try to reach family doctors, cooperate with specialists in the country and with other centers dealing with metabolic and lipid disorders.

Patients who do not respond to blood cholesterol-lowering therapy receive another treatment option - LDL-apheresis.

This method is used in patients with familial hypercholesterolaemia with LDL cholesterol>300 mg / dL without cardiovascular disease or LDL-C>160 mg / dL in patients with documented coronary artery disease, in which, despite diet and maximum tolerated pharmacotherapy for at least 6 months, no improvement in lipid profile is achieved.

Read also: Cholesterol norms. Total cholesterol, LDL and HDL

Treatment of hypercholesterolaemia - gene therapy and vaccine

In the case of familial hypercholesterolaemia, scientists are also trying to use gene therapy. It consists in taking liver cells (hepatocytes) from the patient and then inserting into them genes encoding the receptor protein.

These modified cells are introduced into the body through the portal vein to reach the liver. Previous studies show that after a few weeks the level of cholesterol in the blood drops significantly.

However, we still have to wait for the widespread use of this method. Another idea for fighting congenital hypercholesterolaemia is an anticholesterol vaccine. While the results of animal studies are promising, no full success is yet availablefar away.

More information about the disease can be found on the Association's website: www.hipercholesterolemia.pl.

The article uses press materials of the Association of Patients with Family Hyperlipidemia.

Category:

Genetic diseases