Familial hypercholesterolaemia: case finding, assessment, and management
Sadaf Qureshi and Dr Nadeem Qureshi review updated NICE guidance on familial hypercholesterolaemia and discuss the importance of proactive identification of this patient group in primary care
Common genetic conditions: a guide for GPs—part 2
Drs Rosalyn Jewell, Schaida Schirwani, and Jude Hayward discuss key aspects of genetic conditions, including breast cancer and cystic fibrosis, that GPs should be aware of
Common genetic conditions: a guide for GPs—part 1
Drs Rosalyn Jewell, Schaida Schirwani, and Jude Hayward look at the role of GPs in identifying and managing FH, ADPKD, Down syndrome, and AAT deficiency
Related Guidelines summaries
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NICE CF diagnosis and management guideline
This summary of the NICE cystic fibrosis guideline covers the key points for primary care, including diagnosis, support, and long-term management.
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NICE FH guideline
Summary of NICE guidance on the identification and management of familial hypercholesterolaemia. Includes diagnostic criteria and screening relatives.
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Down's Syndrome Association annual health check guideline
This useful and concise checklist covers health checks for people with Down's syndrome
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NICE breast cancer guideline
An easy-to-read NICE guidance summary on the classification and care of people at risk of familial breast cancer or with a family history of breast cancer.