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Published on: September 15, 2018
Liver transplantation in severe homozygous familial hypercholesterolaemia: a scoping review
Jing Pang1, Samuel S Gidding2, Erin Kelty3
1Medical School, University of Western Australia, Western Australia, Australia.
Insights
Liver transplantation can normalize cholesterol in homozygous familial hypercholesterolaemia (HoFH). However, long-term safety and efficacy data for this HoFH treatment are limited, requiring further research.
Area of Science:
- Cardiology
- Hepatology
- Genetics
Background:
- Homozygous familial hypercholesterolaemia (HoFH) is a severe genetic disorder.
- Liver transplantation is a potentially curative treatment for HoFH.
- Long-term outcomes of liver transplantation in HoFH are not well-established.
Purpose of the Study:
- To review the safety and efficacy of liver transplantation in patients with HoFH.
- To examine existing literature on liver transplantation for HoFH.
Main Methods:
- A scoping review of 76 studies and 212 cases was conducted.
- Literature search included five databases from inception to September 2025.
- Focused on safety (complications, mortality) and effectiveness (LDL-C, xanthoma, cardiovascular events).
Main Results:
- Liver transplantation effectively reduced LDL-C and regressed xanthomata in HoFH patients.
- The majority of studies were case reports, primarily involving children.
- Long-term cardiovascular events and mortality data were inconsistently reported.
Conclusions:
- Liver transplantation shows promise for managing HoFH by normalizing LDL-C.
- The rarity of HoFH limits comprehensive understanding of transplantation's long-term safety and efficacy.
- Utilizing liver transplantation registries is recommended for larger sample sizes and standardized follow-up.
Background And Aims:
Liver transplantation is the only known potentially curative treatment for homozygous familial hypercholesterolaemia (HoFH). While this procedure often normalises low-density lipoprotein cholesterol (LDL-C) levels and can reverse coronary atherosclerosis and regress xanthomata, its long-term risks and benefits remain elusive. The purpose of this review was to examine the extant literature on the safety and efficacy of liver transplantation in patients with HoFH.
Methods:
A scoping review was conducted for relevant literature primarily focused on safety (e.g. surgical complications, rejection, immunosuppressive therapy, mortality) and effectiveness outcomes (e.g. serum LDL-C levels, xanthoma changes, atherosclerotic cardiovascular disease or events) of liver transplantation in severe HoFH. The PRISMA-ScR guideline was followed. We searched five databases (Medline, Embase, Global Health, Web of Science and CINAHL) from inception to September 2025.
Results:
A total of 76 studies and 212 cases were included. The majority (53%) of studies were case reports. Liver transplantation was done mostly in children, genetically or phenotypically diagnosed with HoFH. The median follow-up time for individuals was 3.5 years. While the effectiveness of liver transplantation with reference to LDL-C reduction and xanthomata regression were well documented, long-term outcomes such as cardiovascular events and mortality were not consistently reported.
Conclusions:
While liver transplantation holds great potential for normalising circulatory LDL-C levels in patients with HoFH, due to the rare nature of HoFH, the current literature remains incomplete concerning its safety and efficacy. To fill this gap, future efforts should utilise liver transplantation registries, to increase sample size and standardise longer-term follow-up.
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