Introduction: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening, inherited condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C). Patients are at high risk of atherosclerotic cardiovascular disease, adverse cardiovascular events, and associated early mortality. Liver transplant is sometimes used with curative intent. The objective of the current case series was to evaluate the follow-up of a range of patients who have undergone liver transplant for the treatment of HoFH. Methods: Patients with clinical and/or genetic diagnoses of HoFH were treated according to local practices in four units in Europe and the Middle East. All patients underwent liver transplantation. Baseline and long-term follow-up data were collected, including LDL-C levels, DNA mutations, lipid-lowering medications, and complications due to surgery and immunosuppressive therapy. Results: Nine patients were included with up to 22 years’ follow-up (mean ± SD 11.7 ± 11.7 years; range 0.5–28 years). Three of the patients died as a result of complications of transplant surgery (mortality rate 33%). Among the surviving six patients, four required continued lipid-lowering therapy (LLT) to maintain LDL-C levels and two patients show signs of increasing LDL-C levels that require management. One case (11%) required two consecutive transplants to achieve a viable graft and is awaiting a third transplant because of graft failure. Conclusions: Liver transplant did not enable attainment of recommended LDL-C targets in most patients with HoFH, and the majority of patients still required post-transplant LLT. Liver transplant was not curative in most of the patients with HoFH followed. Guidelines suggest that transplant is a treatment of last resort if contemporary treatments are not available or possible.
Bibliographical noteFunding Information:
Meral Kayikcioglu has received honoraria (for lectures and consultancy) from Abbott, Abdi Ibrahim, Aegerion, Amgen, Bayer Schering, Merck, Mylan, Sanofi, and Pfizer, and research funding from Aegerion, Amgen, Pfizer, and Sanofi and has participated in clinical trials with Amgen, Bayer Schering, Merck, Sanofi-Genzyme, and Pfizer.
The treatment of the patients in this case series was not funded by an external source. The journal’s Rapid Service and Open Access fees were paid by Amryt Pharmaceuticals DAC. The authors thank Nigel Eastmond, professional medical writer at Eastmond Medicomm Ltd (High Peak, UK), funded by Amryt Pharma DAC (Dublin, Ireland), for editorial and technical support in the preparation of the manuscript. All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work, and have given their approval for this version to be published. All authors contributed to the treatment of the patients and the design of their treatment protocols. Material preparation, data collection and analysis were performed by all authors. The first draft of the manuscript was written by Mohammed Al Dubayee and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. Mohammed Al Dubayee received honoraria for speaker activities from Amgen and Amryt. Meral Kayikcioglu has received honoraria (for lectures and consultancy) from Abbott, Abdi Ibrahim, Aegerion, Amgen, Bayer Schering, Merck, Mylan, Sanofi, and Pfizer, and research funding from Aegerion, Amgen, Pfizer, and Sanofi and has participated in clinical trials with Amgen, Bayer Schering, Merck, Sanofi-Genzyme, and Pfizer. Jeanine Roeters van Lennep has received honoraria for consultancy and speaking engagements from Aegerion and Amryt. Nadia Hergli is an employee of Amryt Pharmaceuticals DAC. Pedro Mata has received honoraria for consulting and speaker activities for Aegerion, Amgen and Sanofi. This case series was conducted as a retrospective study of normal patient care and is not subject to institutional review board approval. The study was performed in accordance with the Helsinki Declaration of 1964, and its later amendments. All of the patients provided written consent for their details to be published in the current case series. In the instances where patients died, consent was secured from the patients’ estates and/or living relatives. The full data set is not provided as it contains identifying information. The authors thank the patients and families. The data sets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
© 2022, The Author(s).