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Treatment of homozygous familial hypercholesterolaemia: an informative sibship
Insights
Early treatment for homozygous familial hypercholesterolaemia (HoFH) can prevent xanthomas and heart disease. Aggressive lipid-lowering therapy in HoFH patients delays atherosclerosis, even without normalizing cholesterol levels.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder characterized by high cholesterol levels.
- Homozygous familial hypercholesterolaemia (HoFH) is a severe, rare form of FH.
- HoFH typically leads to premature cardiovascular disease and early death.
Purpose of the Study:
- To investigate the long-term effects of early intervention in a patient with homozygous familial hypercholesterolaemia.
- To assess the impact of lipid-lowering treatment on the development of atherosclerosis and cardiovascular complications in HoFH.
Main Methods:
- Case study of a family with heterozygous FH, identifying four children with homozygous FH.
- Longitudinal monitoring of the fourth homozygous child, including plasma cholesterol levels, clinical examinations, and coronary angiography.
- Comparison of outcomes between treated and untreated homozygous individuals.
Main Results:
- Untreated homozygous children developed xanthomas and died young (ages 3, 9, 10).
- The treated homozygous child showed no xanthomas or clinical heart disease at age 15.
- Coronary angiography in the treated patient was virtually normal, despite a 30% reduction in plasma cholesterol.
- Cholesterol levels remained significantly elevated despite treatment.
Conclusions:
- Early initiation of lipid-lowering treatment in HoFH can significantly delay or prevent the onset of atherosclerosis and coronary heart disease.
- Effective management of HoFH is possible even when normal plasma cholesterol levels are not achieved.
- Aggressive treatment strategies are crucial for improving outcomes in homozygous familial hypercholesterolaemia.
Abstract:
In a family in which both parents had the heterozygous form of familial hypercholesterolaemia four of the children had the homozygous form. The three oldest homozygous children, two of whom did not receive any treatment and in one of whom treatment did not lower the plasma cholesterol concentration, developed xanthomas in early childhood and died aged 3, 9, and 10 years. The fourth homozygous child was treated with diet and drugs from the age of 1 and at the age of 15 had no xanthomas, no clinical evidence of heart disease, and a virtually normal coronary angiogram. His plasma cholesterol concentration was reduced by about 30% but remained considerably raised. It is concluded that treatment, if started before atherosclerosis develops, can delay the onset of atheroma and coronary heart disease even though normal plasma cholesterol concentrations are not achieved.