What are the characteristics of familial hypercholesterolemia?
Tomasz Jankowski
2026-03-19
4 min. read
1 / 1
1 zdjęcie
186
Dyslipidemia denotes an irregular lipoprotein level in fasting serum or an inadequate composition. One manifestation of dyslipidemia is hypercholesterolemia, which is identified through laboratory assessments. Genetically determined elevated cholesterol levels heighten the likelihood of cardiovascular conditions and are categorized as familial hypercholesterolemia.
Family hypercholesterolemia What is it?
The most commonly diagnosed monogenic lipid-economy disorder is familial hypercholesterolemia. In most cases, it is caused by a mutation within the gene that determines LDL receptors. The mutation is inherited in an autosomal dominant manner and occurs in heterozygous (in developed countries it affects 1,500 people) and homozygotic (in 1 million live births). It is thought to be one of the better-known genetically conditioned disorders, and its onset significantly increases the risk of developing breast tissue and other cardiovascular residues. As a result, the disease can cause a decrease in the body's cholesterol levels, despite the fact that LDL-cholesterol levels in individuals with high levels of cholesterol in their diets can be caused by changes in cholesterol levels.
What are the symptoms of familial hypercholesterolemia?
It is estimated that the symptoms of coronary artery disease occur in about half of men with familial hypercholesterolemia before the age of 50 and in 30% of women before 60 years of age. Moreover, the mortality rate from cardiovascular disorders due to the occurrence of familial hyperacteremia in people between the ages of 20 and 39 is almost 100 times higher than in the general population. For this reason, it is extremely important to diagnose the disease early and to introduce an effective treatment that reduces the risk of developing heart disease and to reduce the number of premature deaths from heart disease: however, many people with symptoms of heart disease may have difficulties following a heart attack or heart attack, so there is no cure at all.
How do you diagnose this disease?
The recognition is based on the criteria of the Dutch Lipid Network adopted in Geneva in 1998 by the WHO. The criteria for the diagnosis of familial hypercholesterolemia include: family history presence of first-degree familial disorders, history of disease early coronary artery disease or early development of atherosclerosis, subject studies occurrence of corneal jaundice or ribs before 45 years of age, elevated LDL cholesterol levels, DNA analysis mutation in genes: LDLR, APOBSK9.
Treatment of family hypercholesterolemia
Treatment of familial hypercholesterolemia is based on the introduction of statin-based medicines to regulate LDL cholesterol and thereby reduce the risk of complications of the disease. A complete withdrawal of treatment may result in a re-increase in the risk for atherosclerosis and coronary events, as the medicines do not affect gene mutations but only their effect, which is the accumulation of cholesterol in the blood. In children, pharmacological therapies are usually not used, and it is recommended to change the lifestyle of the family and to introduce healthy diets based on a healthy diet.
