Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia FH is an autosomal-codominant monogenic disorder of LDL-C metabolism. FH is primarily because of mutations in the LDL-R gene on the short arm of chromosome 19 (1). According to the clinical phenotype of the disease, FH has been classified into ‘‘heterozygous’’ and ‘‘homo- zygous’’ forms. In homozygous FH, hypercho- lesterolemia is present from birth, and plasma TC levels often exceed 1000 mg/dL, leading to severe atherosclerosis in childhood and death from myocardial infarction usually before the age of 20 (2). Pharmacological treatments poten- tially useful in the heterozygous form of the disease generally fail in homozygous FH (3). Alternative therapies like plasmapheresis, ileal bypass, or portocaval shunt have been tried to control high cholesterol levels in these patients (2–4). Liver transplantation has also been intro- duced as a hopeful treatment option in homozy- gous FH (5). We present herein three siblings with homozygous FH who were successfully treated with liver transplantation, and we discuss the related literature. Patients and methods Case 1 A 13-yr-old female patient suffered from high TC levels (>900 mg/dL) and severe cardiac problems. She was admitted to our hospital for LDLT. Her first application to hospital was seven yr before with skin xanthomas around the eyes and joints. There were five siblings in the family, and our patient was the second child. Her plasma TC level was 1000 mg/dL. According to the cardiac examination, she had a mild aortic stenosis, moderate aortic regurgitation, and mild mitral regurgitation. In addition to a cholesterol- restricted diet, medical therapy including ezetimibe (10 mg/ day; Ezetrol, Merck Sharp Dohme, Whitehouse Station, NJ, USA), fluvastatin (40 mg/day; Lescol, Novartis, Swit- zerland), and omega-3 unsaturated lipid acid (1500 mg/day; Marincap, Koc¸ak, Turkey) was administered. Despite the medical treatment, her general condition worsened and TC level could not be controlled. Her cousin was also admin- istered as a donor for LDLT. Left lobe liver transplantation was performed. The operative and post-operative courses were uneventful. Immunosuppressive protocol including tacrolimus, mycophenolate mofetil, and steroid was administered. Her TC level was significantly decreased after LDLT (Table 1). She was discharged on the 11th post- operative day under fluvastatin treatment. TC level 10 months after the operation was 146 mg/dL. She has been followed without problems. Case 2 A 14-yr-old female patient suffered from high TC levels and severe cardiac problems, as observed in her sister. She was admitted to our hospital for LDLT. After the diagnosis of FH in her sister, the medical evaluation revealed the Ku¨c¸u¨kkartallar T, Yankol Y, Kanmaz T, Topalog˘lu S, Acarli K, Kalayoglu M. Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia. Pediatr Transplantation 2011: 15: 281–284. Ó 2011 John Wiley & Sons A/S. Abstract: FH is a hereditary inherited disorder of cholesterol metabolism. Homozygous form of the disease associates severe form of atherosclerotic disease. Clinicians have been tried to inhibit the progression of the homozygous FH with medical and surgical treat- ment. We here present three siblings with homozygous FH who were successfully treated with liver transplantation. Tevfik KüÅükkartallar, Yucel Yankol, Turan Kanmaz, Serdar Topalog ˘lu, Koray Acarli and Munci Kalayoglu Department of Organ Transplantation, Istanbul Memorial Hospital, Okmeydani, Istanbul Key words: familial hypercholesterolemia – siblings – surgical treatment – liver transplantation KüÅükkartallar Tevfik, Memorial Hospital, Surgery Tel.: +90 0 212 314 66 66 Fax: +90 0 212 314 66 21 E-mail: tevfikkk75@hotmail.com Accepted for publication 6 December 2010 Abbreviations: FH, Familial hypercholesterolemia; HMG, 3-hydroxy-3 methylglutaryl; LDL, low-density lipoprotein; LDL-C, low-density lipoprotein cholesterol; LDL-R, LDL receptor; LDLT, living donor liver transplantation; TC, total cholesterol. Pediatr Transplantation 2011: 15: 281–284 Ó 2011 John Wiley & Sons A/S. Pediatric Transplantation DOI: 10.1111/j.1399-3046.2010.01469.x 281