Long-term use of a combination of atorvastatin and ezetimibe in children with homozygous familial hypercholesterolemia

Devi Dayal, Keerthivasan Seetharaman, Savita Bhunwal, Nimisha Jain


Background: Homozygous familial hypercholesterolemia (HoFH) is an underdiagnosed and undertreated genetic disorder of lipoprotein metabolism associated with mortality during young age due to accelerated atherosclerosis. There is limited data on the efficacy of lipid lowering therapies in HoFH.

Methods: Medical records of 3 children with HoFH who received a combination of atorvastatin and ezetimibe for a mean duration of 11.6±1.5 years were retrospectively analysed.

Results: There was a significant decrease in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) from the baseline levels (mean percent change in TC, LDL-C, TG and HDL-C of 58.5%, 56.2%, 67.5% and 29.7% respectively).

Conclusions: We conclude that long-term use of a combination of atorvastatin and ezetimibe significantly lowers the plasma LDL-C concentrations in patients with HoFH without causing any significant adverse effects. Ours is the first study from India on long-term use of lipid modifying drug therapy in children with HoFH.


Atorvastatin, Ezetimibe, Familial hypercholesterolemia, Homozygous, Lipid lowering therapy

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Lee SH. Update on familial Hypercholesterolemia: diagnosis, cardiovascular risk, and novel therapeutics. Endocrinol Metab (Seoul). 2017;32:36-40.

Setia N, Saxena R, Arora A, Verma IC. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. Atherosclerosis. 2016;255:31-6.

Kalra S, Sawhney J, Sahay R. The Draupadi of dyslipidemia: familial hypercholesterolemia. Indian J Endocrinol Metab. 2016;20:285-7.

Turgeon RD, Barry AR, Pearson GJ. Familial hypercholesterolemia: review of diagnosis, screening, and treatment. Can Fam Physician. 2016;62:32-7.

Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev. 2017;7:CD006401.

Wiklund O, Pirazzi C, Romeo S. Monitoring of lipids, enzymes, and creatine kinase in patients on lipid-lowering drug therapy. Curr Cardiol Rep. 2013;15:397.

Gagné C, Gaudet D, Bruckert E. Ezetimibe study group. Efficacy and safety of ezetimibe co-administered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation. 2002;105:2469-75.

Dogra K, Goyal A, Khadgawat R, Gupta Y, Rout D, Fulzele PP, et al. Low-density lipoprotein apheresis in a pediatric patient of familial hypercholesterolemia: Primi experientia from a tertiary care center in North India. Asian J Transfus Sci. 2017;11(1):58-61.

Huang CH, Chiu PC, Liu HC, Lu YH, Huang JK, Charng MJ, Niu DM. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect. J Clin Lipidol. 2015;9(2):234-40.

Manoj K, Jain N, Madhu SV. Myopathy in patients taking atorvastatin: a pilot study. Indian J Endocr Metab. 2017;21:504-9.