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Homozygous Familial Hypercholesterolemia (HoFH)

Liver transplantation shows long-term success in treating homozygous familial hypercholesterolaemia

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Liver transplantation (LT) has demonstrated significant long-term effectiveness in reducing low-density lipoprotein cholesterol (LDL-C) concentrations in individuals with homozygous familial hypercholesterolaemia (FH) in Australia and New Zealand, according to a study.

The study included 9 patients, with a mean follow-up of 14.1 years (range 4-27).

Prior to LT, the baseline low-density lipoprotein cholesterol (LDL-C) off all treatment was alarmingly high at 23 ± 4.1 mmol/L. On medical therapy, including maximal statin therapy, ezetimibe, and lipoprotein apheresis (LA), the mean LDL-C dropped significantly to 11 ± 5.7 mmol/L. Following LT, there was a reduction in mean LDL-C to 2.6 ± 0.9 mmol/L (p = 0.004). Notably, 3 patients remained on statin therapy, while none required LA.

The study reported 1 case of a patient who succumbed to acute myocardial infarction (AMI) 3 years after LT. Two other patients, more than 10 years post-LT, underwent aortic valve replacement. However, the remaining 6 patients, with follow-ups ranging from 8 to 21 years, showed no symptoms, indicating a high level of success.

No significant adverse events associated with immunosuppression were reported.

Reference
Page MM, Hardikar W, Alex G, et al. Long-term outcomes of liver transplantation for homozygous familial hypercholesterolaemia in Australia and New Zealand. Atherosclerosis. 2023;387:117305. doi: 10.1016/j.atherosclerosis.2023.117305. Epub 2023 Oct 10. PMID: 37863699.

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