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Rare disease
CASE REPORT
Management of homozygous familial hypercholesterolaemia in two brothers
  1. José Real1,
  2. Cristina Arbona2,
  3. Rosa Goterris2,
  4. Juan Francisco Ascaso1
  1. 1Department of Medicine, University of Valencia, Valencia, Spain
  2. 2Apheresis Unit, Haematology Service, University of Valencia, Valencia, Spain
  1. Correspondence to Professor José Real, Jose.T.Real{at}uv.es

Summary

Homozygous familial hypercholesterolaemia (HoFH) is a rare, genetic disorder of abnormally high levels of low-density lipoprotein cholesterol (LDL-C) requiring aggressive interventions to retard the evolution of atherosclerotic cardiovascular disease. We treated two brothers (ages 46 years and 47 years) with HoFH with statins, lipoproteinapheresis (LA) and the microsomal triglyceride transfer protein inhibitor lomitapide. Both brothers carried the p.Thr434Arg homozygous LDLR mutation and had childhood total cholesterol levels >700 mg/dL. Inter-LA LDL-C levels remained high; therefore, they were given escalating doses of oral lomitapide (5–10 mg/day). One brother was able to maintain LDL-C levels <70 mg/dL and stop LA. Lomitapide was well tolerated, with only an episode of headache requiring dose reduction from 40 mg/day to 20 mg/day in one patient. In two HoFH cases, lomitapide was an effective and well-tolerated adjunct therapy. Lomitapide doses required to maintain LDL-C goal levels appear to be lower in clinical practice than in clinical trials.

  • lipid disorders
  • endocrine system
  • congenital disorders

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/bcr-2017-222155

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    Footnotes

    • Contributors JR: direct responsibility for patient care; wrote, edited and reviewed all drafts; and approved final draft for submission. CA, RG and JFA: direct responsibility for patient care; edited and reviewed all drafts; and approved final draft for submission. Editorial assistance in the preparation of the manuscript was provided by Nigel Eastmond of Eastmond Medicomm Limited, and was funded by Amryt Pharmaceuticals DAC.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.