Severe Premature Coronary Artery Disease in Homozygous Familial Hypercholesterolemia with Marked Lipid Reduction After Inclisiran Therapy
https://doi.org/10.15605/jafes.041.S1
- Author:
Shaleela Mohd Esha
1
;
Hazwani Aziz
1
;
Elliyyin Katiman
1
Author Information
1. Hospital Tengku Permaisuri Norashikin
- Publication Type:Journal Article
- MeSH:
ALN-PCS;
Coronary Artery Disease;
Homozygous Familial Hypercholesterolemia;
Lipids
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):65-66
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Homozygous familial hypercholesterolemia (HoFH) is a
rare inherited disorder characterized by markedly elevated
low-density lipoprotein cholesterol (LDL-C) from birth,
childhood xanthomas, and accelerated atherosclerotic
cardiovascular disease. Achieving LDL-C targets remains
difficult despite statins, ezetimibe, and lipoprotein apheresis,
especially in patients with treatment interruption, poor
adherence, or limited access to specialized lipid services.
We report a female with genetically confirmed HoFH who
developed severe premature coronary artery disease and
showed marked lipid reduction after inclisiran therapy.
Case:A 28-year-old Malay female with LDL receptor mutationconfirmed HoFH, diagnosed at age 7, had a strong family
history of premature cardiovascular death. She underwent
biweekly lipoprotein apheresis from ages 8 to 15 years,
but later defaulted on follow-up. During pregnancy in
2021, weekly then biweekly apheresis was reintroduced
for severe hypercholesterolemia, but she disengaged
postpartum. In 2025, she re-presented with exertional chest pain, orthopnea, and palpitations. Examination
showed widespread xanthomas. Electrocardiography
demonstrated sinus tachycardia with inferolateral ST
depression. Echocardiography revealed a left ventricular
ejection fraction of 40%, anterior and septal akinesia, severe
mitral regurgitation, moderate tricuspid regurgitation, and
pulmonary hypertension. Her lipid profile showed total
cholesterol 18.1 mmol/L and LDL-C 14.9 mmol/L. Coronary
angiography demonstrated triple-vessel disease with left
main stem involvement and critical right coronary ostial
stenosis. Coronary artery bypass grafting was advised but
declined. She was treated with high-dose rosuvastatin,
ezetimibe, dual antiplatelet therapy, and inclisiran 284 mg.
After one dose of inclisiran, total cholesterol fell to 6.78 mmol/L
and LDL-C to 4.71 mmol/L, a reduction of more than 60%.
Conclusion:This case highlights the aggressive natural history of inadequately controlled HoFH and the importance of sustained
lifelong therapy. Inclisiran may provide additional LDL-C
reduction in selected HoFH patients, although long-term
cardiovascular outcome data remain limited.
- Full text:2026080316404657865EP_A084.pdf
