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[Hypercholesterolemia ]
1Institut für Medizinische Biochemie, Universität Graz.
Insights
Familial hypercholesterolemia, a common genetic disorder, can lead to early heart disease. Early diagnosis and aggressive treatment, including lipid-lowering drugs, are crucial for better outcomes.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Context:
- Hypercholesterolemia encompasses various types, including genetic forms like familial hypercholesterolemia and familial apolipoprotein B-100 defect.
- These conditions are prevalent genetic disorders, affecting approximately 1 in 500 individuals globally.
- Severe coronary arteriosclerosis and premature death are significant risks, particularly in homozygous familial hypercholesterolemia.
Purpose:
- To review the types, pathophysiology, diagnosis, and therapy of hypercholesterolemia.
- To highlight the clinical similarities and severe consequences of familial hypercholesterolemia and familial apolipoprotein B-100 defect.
- To emphasize the importance of differentiating monogenetic from polygenetic forms and implementing proactive screening and treatment strategies.
Summary:
- Familial hypercholesterolemia and familial apolipoprotein B-100 defect present similarly, causing severe atherosclerosis and early mortality, with homozygous forms leading to adolescent coronary heart disease.
- These genetic disorders necessitate precise diagnosis to distinguish them from polygenetic hypercholesterolemia, underscoring the need for family screening.
- Effective management requires aggressive therapeutic interventions, as monotherapy and diet alone achieve target cholesterol levels in only 25% of patients.
Impact:
- Aggressive treatment strategies, including HMG-CoA reductase inhibitors and combination drug therapies, are essential for managing hypercholesterolemia.
- Early detection and intervention in familial hypercholesterolemia can significantly improve patient prognosis and reduce premature cardiovascular events.
- Alternative treatments like extracorporeal cholesterol elimination may be necessary for refractory cases, improving long-term outcomes.
Abstract:
This review article describes the types, pathophysiology, differential diagnosis and therapy of hypercholesterolemia. Special attention has been directed towards familiar hypercholesterolemia and familiar apolipoprotein B 100 defect. Clinically, both forms present very similar and may cause severe coronary arteriosclerosis and death before the age of 40 years. In the homozygote form CHD even develops prior to adolescence. With a frequency of 1:500 these forms of hypercholesterolemia are among the most common genetic disorders worldwide. The poor prognosis and their monogenetic dominant character emphasize the need for an exact distinction from the poligenetic forms of hypercholesterolemia and moreover underscore the necessity to screen for affected members in the family of already diagnosed cases and call for more aggressive therapeutic interventions. By dietary measures and monotherapy only 25% of patients reach the recommended cholesterol values. HMG-CoA reductase inhibitors proved to be the most effective. The remainders have to be treated with combinations of up to 3 lipid-lowering drugs. Alternative treatment such as extracorporal cholesterol elimination may become necessary.