Case progression and management issues

In the video, Prof Qureshi gives further detail of management of FH patients.

The patient’s concerns:

Azeeb is concerned about the diagnosis and the implications for family members. He is married with two children aged 16 and 12. He was very upset when his father passed away at the age of 47, died suddenly of a MI. Thus he is keen to ensure his own health remains good as well as making sure that his family get diagnosed early.

What are the key issues to consider at this stage?

NICE guidance captures the further clinical management of FH: lifestyle interventions, drug treatment, specialist referral and management. Management of cholesterol level through medication should be instituted at diagnosis, often within primary care, although referral to secondary care may be indicated if thresholds for reduction in cholesterol are not achieved. The linked guidelines advise lowering LDL-C to at least 50% of untreated levels.

Onward referral also enables consideration for genetic testing for FH within specialist clinics.

Family members may be undiagnosed. Another important reason for onward referral is to initiate cascade testing, a process whereby relatives of the index case are identified with the aim of offering genomic testing. Principles around data-sharing, confidentiality and data protection should be upheld. In primary care the family history is also important in advising the patient which family members are potentially at risk and should request a lipid profile from their own GP.

The British Heart Foundation have published a study concluding that testing is highly cost effective and would prevent thousands of premature heart attacks.