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Navigable Slide Index

1. Introduction
2. Talk outline
3. FH diagnosis in family Y (1)
4. Diagnosis of FH
5. Genes involved in cholesterol metabolism
6. LDL-r protein and LDLR gene arrangement
7. Second FH-causing gene: ApoB
8. The third FH gene: NARC-1 - PCSK9
9. How statins work
10. Are statins effective in patients with FH?
11. Do statins reduce CHD in FH patients?
12. How common is FH in UK? expect 1/500
13. FH - five key facts
14. DNA testing for FH - current status
15. DNA testing for common mutations
16. DNA screening for common deletions
17. Screening strategy for FH samples
18. UCL 2007 database of published LDLR mutations
19. FH diagnosis in family Y (2)
20. Confirming FH diagnosis in family Y
21. Genetic diagnosis in FH family M
22. Cascade testing (CT) for FH patients
23. The overlap problem
24. LDL-C in FH and non-FH, analysed by age
25. Will DNA testing influence patient management?
26. FH cascade testing (CT) is being started in UK
27. Recommendations
28. Clinical utility of DNA tests in FH
29. The BHF-Simon Broome FH project
30. Mutation type and cholesterol levels
31. CHD risk and the specific mutation
32. Clinical questions in FH management: adults
33. Clinical questions in FH management: childhood
34. Perception of genetic risk information
35. Psychological impact of DNA testing in FH
36. FH and eligibility for life insurance
37. Test FH patient characteristics
38. Test FH patient excess rating
39. FH and DNA-based testing: conclusions

Topics Covered

• Clinical diagnostic criteria
• Prevalence in UK
• Effects of statins on cholesterol and CHD risk lowering
• The 3 genes where mutations cause FH (LDLR, APOB, PCSK9)
• Clinical Genetics Diagnostic service for FH and examples in families
• Cascade testing for FH patients using LDL cholesterol levels
• The Overlap problem
• The Simon Broome FH register project and the high risk of early CHD in those with an LDLR and PCSK9 mutation
• The LDLR mutation database
• Ethical issues about genetic testing for FH
• Clinical questions in the management of FH
• FH testing and insurance

Links

Series:

• Genetics of Cardiovascular Disease

Categories:

• Clinical Practice
• Genetics & Epigenetics

Therapeutic Areas:

• Cardiovascular & Metabolic

Talk Citation

Humphries, S. (2008, November 24). Familial hyperchlolesterolaemia: a monogenic cause of early CHD [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/WWAA8315.
Export Citation (RIS)

Publication History

• Published on November 24, 2008
• Archived on August 31, 2023

Financial Disclosures

• Professor Humphries is the Medical Director of StoreGene a UCL spin out company that offers DNA testing for Cardiovascular Disease risk including testing for FH. Professor Humphries is a consultant for Verve Therapeutics, a US based company that is developing gene-editing agents to treat individuals with hypercholesterolaemia, including those with FH.