hrp0084p2-351 | Fat | ESPE2015

Domino Liver Transplantation for the Pre-Emptive Therapy of Compound Heterozygous Familial Hypercholesterolemia: A Case of 2-Year-Old Girl

Tanaka Hiroyuki , Sugawara Daisuke , Tanaka Yasuko , Yoshida Tomoko , Nakao Kanako , Uchida Noboru , Yamamoto Akiko , Fukuda Akinari , Kasahara Mureo , Horikawa Reiko

Background: Patients with homozygous and compound heterozygous familial hypercholesterolemia (FH) have markedly elevated plasma LDL cholesterol (LDL-C) from birth. If untreated, patients develop cardiovascular atherosclerosis resulting in death before the second decade of life. Medication and apheresis are only partially effective in reducing LDL-C levels, and do not significantly improve the prognosis. Liver transplantation (LT) can nearly normalize the cholesterol metabolism...