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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Familial hypercholesterolaemia in Portugal.
M Bourbon1, A C Alves, A M Medeiros
1Unid. Investigação Cardiovascular, Inst. Nacional de Saúde, Lisbon, Portugal. mafalda.bourbon@insa.min-saude.pt
Atherosclerosis
|September 4, 2007
Summary
Familial hypercholesterolaemia (FH) is under-diagnosed in Portugal, with genetic testing identifying 204 cases. Early diagnosis and treatment of FH can prevent premature coronary heart disease.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Public Health
Background:
- Familial hypercholesterolaemia (FH) causes high LDL cholesterol, leading to premature atherosclerosis and coronary heart disease (CHD).
- Portugal has an estimated 20,000 FH cases but suffers from severe under-diagnosis.
- This study presents the first Portuguese data on FH genetic diagnosis.
Purpose of the Study:
- To present the first genetic data on Familial hypercholesterolaemia in Portugal.
- To identify mutations causing FH in Portuguese patients and their relatives.
- To assess the effectiveness of cascade screening in diagnosing FH.
Main Methods:
- Collected 602 blood samples from 184 index patients and 418 relatives across Portugal.
- Performed genetic analysis to identify mutations in LDLR, APOB, and PCSK9 genes.
- Utilized cascade screening to identify additional FH cases within families.
Main Results:
- Identified 53 different mutations in 83 index patients, including 79 heterozygous and 4 homozygous LDLR mutations.
- Detected APOB(3500) mutation in 3 patients and a novel PCSK9 mutation (D374H) in 2 patients.
- Cascade screening identified a total of 204 genetically confirmed FH patients.
Conclusions:
- Genetic diagnosis confirmed FH in 204 individuals through comprehensive screening.
- Early identification and treatment of FH patients can significantly improve life expectancy and quality of life.
- Implementing genetic screening programs is crucial for addressing the under-diagnosis of FH in Portugal.
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