Physicians' Academy for Cardiovascular Education

Extent of serum cholesterol-lowering associates with survival in homozygous FH

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

Thompson GR, Blom DJ, Marais DA, et al. - Eur Heart J 2017; published online ahead of print

Background

Homozygous FH leads to extreme elevations of LDL-C from birth, accelerated atherosclerosis and premature death from acute coronary syndrome [1,2]. Two recent retrospective surveys described outcomes in FH homozygotes. Although most patients were treated with statins, the first study with 149 individuals of South Africa, included 15% of patients that were treated with plasmapheresis or lipoprotein apheresis, and reduced serum cholesterol by 24% [3]. Moreover, the second study with 44 individuals in the UK, included 60% of patients that were treated with plasmapheresis of lipoprotein apheresis, and reduced serum cholesterol by 45% [4].

Results of these studies suggest that chances of survival in homozygous FH depend on the extent of reduction in serum cholesterol.

This hypothesis was tested in a combined analysis of data from South African and UK homozygotes treated with various lipid-lowering measures, including statins, ezetimibe, lipoprotein apheresis and evolocumab, between 1990 and 2014. For this purpose, 133 patients who were statin-naïve at baseline, were subdivided into three quartiles according to their on-treatment serum total cholesterol levels: quartile 1: <8.1 mmol/L, quartile 2&3: 8.1–15.1 mmol/L and quartile 4: >15.1 mmol/L.

Main results

Conclusion

A combined analysis of data from South African and UK homozygotes showed that the extent of reduction of serum cholesterol achieved by a combination of therapeutic measures, including statins, ezetimibe, lipoprotein apheresis and evolocumab, is a significant determinant of survival in homozygous FH.

References

Show references

Download ppt slide Find this article online at Eur Heart Fail.

Extent of serum cholesterol-lowering associates with survival in homozygous FH