Author: Dr Patrick Gladding
Familial Hypercholesterolemia (FH) is a critical health concern, particularly for its stealthy yet profound impact on cardiovascular disease. As frontline healthcare providers, General Practitioners in New Zealand play a pivotal role in its early detection and management. Here are some Practice Points on FH, outlining its prevalence, impact, and current treatment options, including recent advancements in lipid-lowering agents.
Prevalence in New Zealand
FH, an inherited high LDL cholesterol condition, affects 1 in 250 New Zealanders. Many are undiagnosed, highlighting the need for GP awareness and screening. Familial dyslipidaemias also involve triglyceride and lipoprotein (a) metabolism disorders. ApoB levels, more accurate than LDL-C, restratify 10-15% of patients.
Definition and Cardiovascular Impact
FH, caused by genetic mutations affecting LDL-C metabolism, leads to elevated cholesterol from birth and a 20-fold increased coronary heart disease risk if untreated. Treatment focuses on lifestyle changes and pharmacotherapy, including statins and ezetimibe. Natural products like fish oil and dietary fibre also lower LDL.
Treatment Advances: PCSK9 Inhibitors
PCSK9 inhibitors, like Praluent (alirocumab) and inclisiran, are promising for FH patients. Praluent reduces LDL-C by up to 60% but is costly. Inclisiran, a biannual RNA interference-based medication, is under cost-effectiveness evaluation.
Emerging Research: siRNA and CRISPR Trials
New Zealand leads in FH research, with trials on siRNA therapies targeting cholesterol-related genetic factors and CRISPR for potential permanent LDL reduction. Novel oral peptide PCSK9 inhibitors are also in trial phases.
Conclusion
For NZ GPs, keeping up with FH treatments, including genetic therapies, is vital. Early detection and management can significantly impact FH progression, reducing cardiovascular disease burden. Ongoing research promises more effective FH treatments.
References and Further Reading
(1) NZ Clinical Research
(2) Nature Article on siRNA
(3) Vervetx Gene-Editing
(4) Merck's Oral PCSK9 Inhibitor Trial
Thank you for your dedication to the health of your patients and the advancement of medical knowledge. We look forward to continuing our journey together in improving cardiovascular care.