title: Liver transplantation for homozygote familial hypercholesterolemia: the only curative treatment.
abstract: FH is an autosomal dominant genetic disorder characterized by increased TC and LDL level, which leads to xanthomas, atherosclerosis, and cardiac complications even in childhood. The treatment options are diet, medical treatment, lipid apheresis, and LT. The aim of our study was to analyze our data of patients with FH. Between 2004 and 2015, there were 51 patients who underwent pediatric LT at our center. All patients with FH were identified, and the data were retrospectively analyzed. There were eight patients with homozygous FH in the median age of 10 years (IQR 6-12) who underwent LT. The median pre-operative TC and LDL levels were 611 mg/dL (IQR: 460-844) and 574 mg/dL (IQR: 398-728) and decreased to normal levels 1 week after LT (TC: 193 mg/dL and LDL: 141 mg/dL). Two patients died two and 18 months after LT due to sudden cardiac arrest. Both patients were diagnosed with cardiovascular disease pre-operatively. The LT is the only curative treatment for this disease. To achieve an excellent outcome, it should be performed before the development of cardiovascular disease, because the regression of severe cardiovascular disease after transplantation is limited.
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Altan
authors.initials: A
authors.lastname: Alim
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Yaman
authors.initials: Y
authors.lastname: Tokat
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Yalcin
authors.initials: Y
authors.lastname: Erdogan
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Gokkaya
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Dayangac
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Yildiray
authors.initials: Y
authors.lastname: Yuzer
authors.affiliation: Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Arzu
authors.initials: A
authors.lastname: Oezcelik
mesh_terms: D001781:Blood Component Removal; D002318:Cardiovascular Diseases / Q000150:complications; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000601:surgery*; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics; D012189:Retrospective Studies; D014019:Tissue Donors; D016896:Treatment Outcome; D014973:Xanthomatosis / Q000150:complications
chemical_list: D011973:Receptors, LDL
keywords: LDL receptor mutation; familial hypercholesterolemia; living donor liver transplantation; pediatric transplantation; premature cardiovascular diseases