The curative treatment of familial hypercholesterolemia: Liver transplantation.

ABSTRACT

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by premature mortal cardiovascular complications. Liver transplantation (LT) is the only curative treatment option. In this study, the long-term clinical follow-up data of 8 patients who underwent LT with a diagnosis of FH in our center are presented. MATERIALS AND METHODS: A total of 638 LT were performed between December 1985 and June 2019 at Baskent University, of which 8 patients underwent LT with a diagnosis of FH and were evaluated retrospectively. RESULTS: Of the 8 patients, 4 underwent deceased donor and 4 living donor transplantation. Five patients had preoperative cardiovascular disease and consequent interventional operations. There was significant reduction in postoperative LDL-C and TC levels starting from the first week, and stabilizing at the first month and first year. The median survival time of patients was 5 years (2-12 years). All patients are still alive. None of the complications of patients with preoperative cardiovascular complications had progressed. CONCLUSION: Liver transplantation is the preferred curative treatment for the pathophysiology of FH. In our study, LDL-C levels were brought under control with LT performed on patients with FH. Median 5-year follow-up of patients showed that the progression of cardiac complications was abated.