The curative treatment of familial hypercholesterolemia: Liver transplantation

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.