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Eur Heart J. 2018 Apr 7;39(14):1162-1168. doi: 10.1093/eurheartj/ehx317.

Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol.

Author information

Department of Metabolic Medicine, Faculty of Medicine, Imperial College London, Hammersmith Campus, Ducane Road, London W12?0NN, UK.
Division of Lipidology, Department of Medicine, UCT Faculty Health Sciences, University of Cape Town, Anzio Road, 7925 Observatory, Cape Town, South Africa.
Division of Chemical Pathology, Department of Pathology, UCT Faculty Health Sciences, University of Cape Town, Anzio Road, 7925 Observatory, Cape Town, South Africa.
Department of Cardiology, Imperial College Healthcare NHS Trust, Charing Cross Hospital, Fulham Palace Road, London W6 8RF, UK.
Carbohydrate and Lipid Metabolism Research Unit, Department of Medicine, University of the Witwatersrand, 7 York Rd, Parktown 2193, Johannesburg, South Africa.



Homozygous familial hypercholesterolaemia (FH) is a rare inherited disorder characterized by extreme hypercholesterolaemia from birth, accelerated atherosclerosis, and premature death. Many forms of lipid-lowering therapies have been used in the past, but definitive evidence of benefit has been lacking. We therefore undertook a retrospective survey of lipid levels and clinical outcomes of FH homozygotes treated with a combination of lipid-lowering measures between 1990 and 2014 in South Africa and the UK.

Methods and results:

We divided 133 previously statin-naive homozygotes into quartiles according to their on-treatment levels of serum cholesterol and compared the occurrence of any death, cardiovascular death, and major adverse cardiovascular events (MACE) between the quartiles during 25 years of follow-up, using Cox and competing risks regression analysis. Patients in Quartile 4, with an on-treatment serum cholesterol >15.1 mmol/L, had a hazard ratio of 11.5 for any death compared with those in Quartile 1, with an on-treatment cholesterol of < 8.1 mmol/L. Those in Quartiles 2 and 3 combined, with on-treatment cholesterol of 8.1-15.1 mmol/L had a hazard ratio of 3.6 compared with Quartile 1. These differences were statistically significant (P < 0.001) and remained so after adjustments for confounding factors (P = 0.04). Significant differences between quartiles were also evident for cardiovascular deaths and MACE.


These findings provide unequivocal evidence that the extent of reduction of serum cholesterol achieved by a combination of therapeutic measures, including statins, ezetimibe, lipoprotein apheresis, and evolocumab, is a major determinant of survival in homozygous FH.


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