Lomitapide treatment in a female with homozygous familial hypercholesterolaemia: a case report

European Heart Journal. Case Reports
Karin LittmannMats Eriksson

Abstract

Homozygous familial hypercholesterolaemia (FH) is an autosomal-dominant inherited disease presenting with highly elevated low-density lipoprotein cholesterol (LDL-C) levels. Untreated, the patient can develop atherosclerosis and cardiovascular disease already in adolescence. Treatment with statins and ezetimibe is usually not sufficient and LDL apheresis is often required. Lomitapide, an inhibitor of the microsomal triglyceride transfer protein, reduces LDL-C and triglyceride levels and can be used alone or in combination with other therapies in homozygous FH. However, experience with this agent is still limited. We present a young female who was diagnosed with homozygous FH at 6 years of age. She shows a complete lack of normal LDL receptor activity and no cholesterol-lowering effect from statins. The patient was treated with LDL apheresis from 7 years of age. When LDL apheresis treatment extended to twice a week, she began to experience adverse effects, including catheter-related complications, infections, and hospital admissions. When lomitapide treatment was initiated, the frequency of apheresis reduced, the LDL-C levels improved and she has not had any further hospital admissions since. Initially, she suffered from gastroi...Continue Reading

References

Dec 6, 2003·Arteriosclerosis, Thrombosis, and Vascular Biology·Suzanne LindBo Angelin
Dec 31, 2003·Ultrasound in Medicine & Biology·Laurent SandrinRobert Palau
Mar 29, 2008·Atherosclerosis·G R Thompson, UNKNOWN HEART-UK LDL Apheresis Working Group
Sep 26, 2012·Clinical Research in Cardiology Supplements·Peter Schuff-WernerPeter Kohlschein
Aug 1, 2015·Journal of Clinical Lipidology·Jeanine Roeters van LennepRodrigo Alonso
May 14, 2016·Journal of Atherosclerosis and Thrombosis·Genovefa D KolovouGerald F Watts
Mar 4, 2017·American Journal of Cardiovascular Drugs : Drugs, Devices, and Other Interventions·Xin LiuGeorge Liu

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