Excerpt

While the NHS in England and Wales has made spectacular progress in improving the secondary prevention of cardiovascular disease, we now need to work harder to identify those who are at particularly high risk of myocardial infarction.

This group includes those with familial hypercholesterolaemia who, because of their high risk of premature coronary heart disease, merit specific attention. The condition is seriously under-diagnosed so that perhaps only one in six patients is known to the NHS and, for those in whom the diagnosis is made, it is often made too late restricting the effect of the treatments available.

Since this condition is genetically determined, families must become the focus of attention so that cascade testing can identify those individuals who will benefit from early treatment and the near-normal life expectancy that can result. The innovative use of DNA testing allied with cholesterol testing will help to ensure that children, young people and adults with this condition are identified and offered timely advice and treatment.

Contents

• Foreword
• Key priorities for implementation
• Recommendations
• 1. Introduction
  • 1.1. Epidemiology
  • 1.2. Management
  • 1.3. Aim of the guideline
  • 1.4. How the guideline is set out
  • 1.5. Scope
  • 1.6. Responsibility and support for guideline development
  • 1.7. Care pathways
  • 1.8. Research Recommendations
  • 1.9. Acknowledgements
  • 1.10. Glossary
• 2. Methods
  • 2.1. Introduction
  • 2.2. Developing key clinical questions (KCQs)
  • 2.3. Literature search strategy
  • 2.4. Identifying the evidence
  • 2.5. Critical appraisal of the evidence
  • 2.6. Economic analysis
  • 2.7. Assigning levels to the evidence
  • 2.8. Forming recommendations
  • 2.9. Areas without evidence and consensus methodology
  • 2.10. Consultation
  • 2.11. Relationships between the guideline and other national guidance
• 3. Diagnosis
  • 3.1. Introduction
  • 3.2. Diagnosing FH
• 4. Identification strategies
  • 4.1. Introduction
  • 4.2. Comparison of identification strategies
• 5. Management (pharmacological treatment)
  • 5.1. Introduction
  • 5.2. Pharmacological treatment
• 6. General treatment – information, lifestyle and assessment and review
  • 6.1. Introduction
  • 6.2. Information needs and support
  • 6.3. Lifestyle interventions including Diet
  • 6.4. Key components for assessment and review
• 7. General treatment – Coronary heart disease assessment and monitoring (including referral)
  • 7.1. Introduction
• 8. Specific treatment
  • 8.1. Introduction
  • 8.2. Specialist interventions
  • 8.3. Contraceptive and obstetric issues
• Reference List
• Appendices
  • Appendix A. Guidelines scope
  • Appendix B. Key clinical questions and searches
  • Appendix C. Clinical data extractions and excluded studies
  • Appendix D. Health economic extractions and excluded studies
  • Appendix E. Health Economic modelling
  • Appendix F. Simon Broome Diagnostic criteria for index individuals and relatives
  • Appendix G. Declaration of Interests

Suggested citation:

DeMott K, Nherera L, Shaw EJ, Minhas R, Humphries SE, Kathoria M, Ritchie G, Nunes V, Davies D, Lee P, McDowell I, Neil A, Qureshi N, Rowlands P, Seed M, Stracey H, Thorogood M, Watson M. Clinical Guidelines and Evidence Review for Familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia. 2008. London: National Collaborating Centre for Primary Care and Royal College of General Practitioners.