Symptoms of familial hypercholesterolaemia that everyone should know [EXPLAINED]

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Although it is believed that elevated cholesterol is the result of poor diet and obesity, in many cases it may be a matter of… genes. In Poland, about 80 thousand. People suffer from familial hypercholesterolaemia, but experts say there may be as many as twice as many. Unfortunately, most are unaware of this. – Cholesterol does not hurt – warns Dr. hab. n. med. Marlena Broncel. How, then, to recognize this dangerous disease? What are the symptoms of familial hypercholesterolaemia?

What is familial hypercholesterolaemia?

Familial hypercholesterolaemia (FH) is an inherited disease caused by a mutation of one of the genes. The problem is that symptoms appear relatively late. Hypercholesterolaemia could be “caught” earlier, but many of us do not regularly do a basic lipid test.

– When a patient has an LDL cholesterol level above 190, a lamp should be lit for each doctor: if we are dealing with familial hypercholesterolaemia – sensitized Dr. Marlena Broncel during the conference “Polish Woman in Europe”. The expert emphasized the importance of family history in people who have too high cholesterol: – If there were sudden deaths in the family in men under 50 or women under 60, the probability that the patient suffers from hypercholesterolaemia family life increases significantly.

Familial hypercholesterolaemia often affects young, lean, and fit people. This makes it very difficult to detect the disease – they don’t even suspect that their cholesterol levels may not be normal. The disease does not give any specific symptoms, it develops insidiously. Patients usually find out about this by accident, for example during periodic health check-ups at work.

Symptoms of familial hypercholesterolaemia

There are several clinical signs of familial hypercholesterolaemia that require special attention. These are:

1. Rąbek rogówkowy, czyli jasna obwódka na oku. Pojawia się, gdy lipidy kumulują się wokół oka. Jak podaje Krajowe Centrum Hipercholesterolemii Rodzinnej, ten objawy pojawia się u połowy pacjentów przed pięćdziesiątką. — Jeśli obwódka pojawi się przed 45. rokiem życia, to znak alarmowy: oznacz cholesterol — ostrzega dr Marlena Broncel;
2. Tendon yellows are papules that are most often found in the Achilles tendon, but also, for example, in the extensor tendons of the fingers. There is yellow goo in these bulges. Tendon jaundice develops at an early stage of the disease and it happens that thanks to them it is possible to diagnose familial hypercholesterolaemia – especially when pain occurs. As Dr. Broncel said, when treatment is started, the jaundice disappears quickly;
3. The yellow tufts on the eyelids look like yellowish lumps, but they are actually cholesterol deposits around the eyes. They occur not only in patients with familial hypercholesterolaemia.

Other symptoms of familial hypercholesterolaemia include: angina chest pain, dizziness, fainting, pain in the legs and arms after exercise, which are conditions that may indicate atherosclerosis.

Diagnosis and treatment of familial hypercholesterolaemia

To find FH, you need to do a genetic test. This is the most accurate method for diagnosing this disease. If it turns out that we have a gene mutation, treatment must be started as soon as possible. The sooner it is, the greater the chances of avoiding serious complications of too high cholesterol, such as a heart attack or stroke.

Patients with hypercholesterolaemia should follow a low-cholesterol diet, practice sports every day for at least half an hour and change their lifestyle – give up stimulants and a sedentary lifestyle. It is also necessary to include drugs that lower cholesterol, such as statins.