Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK9). Many modalities have been used for the treatment of (HoFH) patients including diet, drugs, LDL apheresis, and portacaval shunts. The effectiveness of these therapeutic regimens has shown limited efficacy in reducing the total cholesterol and LDL cholesterol in plasma and only provide temporary solutions for hypercholesterolemia, Previous researches has demonstrated that liver transplantation was a highly effective means to lower the LDL cholesterol level.
Methodology: Retrospectively, we analyzed 17 pediatric patients under the age of 15 years old who had been diagnosed with (HoFH) confirmed by biochemical ± genetic results in the Kingdom of Saudi Arabia. The total cholesterol and (LDL) cholesterol of 17 patients were tested upon initial presentation and compared to the results of lipid testing performed after administration of drug treatment therapy, and then again following liver transplantation.
Results: The results indicated that after the administration of drug therapy, total cholesterol levels decreased by an average of 3.79 mmol/l or 15.16%, and LDL levels decreased on average by 2.72 mmol/l or 12%. However, three values showed an increase from pre-drug treatment values. In contrast, patients' lipid values that were measured following liver transplantation had significantly declined to within normal limits for most patients. Post-transplant total cholesterol values had declined by a mean of 19.96 mmol/l or 81%. The levels of LDL in the post-transplant HoFH patients had experienced a mean decrease of 17.48 mmol/l or 84%. All statistical results were found to be significant with p values < 0.02.
Conclusion: These findings suggest that liver transplantation provides a more effective means in reducing total cholesterol and LDL in HoFH patients. Although liver transplantation is the better treatment for elevated cholesterol, risks, complications, and a shortage of donor organs may present problems.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology