Familial hypercholesterolemia is an inherited condition that causes elevated levels of “bad” cholesterol (LDL) in the blood, the cholesterol responsible for the formation of atherosclerotic plaque in the arteries.
It has nothing to do with diet or lifestyle, but is a matter of genes, and can increase (up to 20 times) the risk of cardiovascular disease, heart attack and stroke, even at a young age. Precisely because it is a genetic disorder, familial hypercholesterolemia cannot be cured. However, it is manageable. Early diagnosis and treatment with medication and lifestyle changes have very good results in treating it.
To identify the problem early, regular screening is crucial. Adults should measure their cholesterol every 4–6 years, while those with a family history should be checked more often. Children should be screened once between the ages of 9–11 and again between the ages of 17–21.
There are two types: Heterozygous familial hypercholesterolemia: Occurs when the mutated gene is inherited from one parent.
Homozygous familial hypercholesterolemia: Rarer and more severe form, when the mutated gene comes from both parents.
Signs of familial hypercholesterolemia
Many people have no symptoms, which is why only one in ten people know they have it. The main warning sign is LDL cholesterol above 190 mg/dL, which is usually detected during routine tests. In advanced cases, you may experience: Lumps in your knees, elbows, or joints
Pain or swelling in your Achilles tendon
Yellow spots around your eyes
White or gray ring around your iris
If these signs appear, your LDL levels are likely to be very high, and immediate medical attention is needed.
Causes of familial hypercholesterolemia
Familial hypercholesterolemia is caused by gene mutations that affect the way your body removes cholesterol from your blood. When this is not done effectively, cholesterol builds up.
60% to 80% of cases are due to mutations in the following genes: LDLR
APOB
PCSK9
A person who has one parent with hypercholesterolemia has a 50% chance of inheriting the disorder. Those with a family history should undergo relevant testing.
Diagnosis
Diagnosis is made by clinical examination, laboratory tests and family history. Initially, doctors look for signs such as cholesterol deposits around the eyes and ask about heart attacks in relatives. LDL levels above 190 mg/dL in adults (or 160 mg/dL in children) are indicative values that may indicate familial hypercholesterolemia. Genetic testing can confirm the diagnosis.
Treatment – Lifestyle changes and medication
Lifestyle changes help, but are not enough on their own. The main recommendations include: Diet low in fat, salt and sugar
Regular exercise
Abstaining from smoking
Limiting alcohol consumption
Frequent monitoring of cholesterol levels
Most patients need medication. Some common options are: Statins to reduce cholesterol production
Cholesterol absorption inhibitors
Bile acid sequestrants
PCSK9 inhibitors that help the liver remove cholesterol
Bempedoic acid that reduces cholesterol production in the liver
Familial hypercholesterolemia is not the result of bad habits; it is a matter of heredity. And for this reason, the most important thing is early diagnosis. The earlier it is detected, the better. If there is a family history or unusually high cholesterol, do not neglect it: a simple check-up can be life-saving.
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