Ching-ngar Hung

Ching-yin Lee

D Lutjohann

DC Rees

DM Niu

G Salen

WF Cheng

International Journal of Pediatric Endocrinology

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POSTER PRESENTATION Open AccessA case of sitosterolaemia withstomatocyticanaemia and thrombocytopeniatreated with Ezetimibe with good responseChing-ngar Hung1*, Ching-yin Lee2From 7th APPES Biennial Scientific MeetingNusa Dua, Bali. 14-17 November 2012Sitosterolaemia is a rare autosomal recessive lipid disordercharacterized by increased absorption of plant sterols inthe gut and decreased biliary excretion of sterols causingaccumulation of plasma sterols, which can lead to prema-ture atherosclerosis.Here we reported a boy presented with multiple tuber-ous xanthomas at 4 year sold and was diagnosed sitostero-laemia [1]. The fasting plasma total cholesterol andlow-density lipoprotein (LDL) cholesterol levels were 18.3mmol/L and 16.41 mmol/L respectively. Gas chromatogra-phy and mass spectrometry showed thatthefasting plasmasterols contained elevated beta-sitosterol 880 µmol/L(Reference range<12 µmol/L), campesterol489 µmol/L(Reference range <17.5 µmol/L) and stigmasterol38.9µmol/L (Reference range <3.5 µmol/L).Molecular studyidentified compound heterozygous mutations (R419H andIVS12+IG®A)in the adenosine triphosphate (ATP)binding cassette subfamily G, member 5 (ABCG5) gene.Initial management included dietary restriction incholesterol and plant sterols and cholestyraminetreat-ment.The total cholesterol and LDL cholesterol levelsdecreased.The boy developed bleeding tendency with gumbleeding and epistaxis and hepatosplenomegalyat7 years old. Blood test confirmed and thrombocytope-nia and peripheralsmear revealed stomatocytichaemoly-ticanaemia and giant platelets [2]. Bone marrow studyshowed hypercellular marrow. He was treatedwith increasing dose of cholestyraminebut the drugcompliance was fair.The haematological problemspersisted.At the age of 13,Ezetimibe 10mg daily was added. Eze-timibe blocks the absorption of dietary and biliarysources of cholesterol and plant sterols. The plateletcount rose from 58 x 109/L to 107 x 109/L in 4 weeks’time and normalized after 10 months of Ezetimibe treat-ment. The haemoglobin level rose from 11 g/dL to 13.8g/dL in 4 months. The plant sterol level also showedsignificant improvement (see table 1). There weredecreased liver and spleen size. The drug was well toler-ated with no adverse effect. The efficacy of Ezetimibe inour patient was sustained after 4 years of treatmentwhich was consistent with the other studies on long-term Ezetimibe treatment [3-6].1Department of Paediatrics and Adolescent Medicine, Princess MargaretHospital, Hong Kong, SARFull list of author information is available at the end of the articleTable 12004 2006 Mar 2008 Jul 2008 (Ezetimide started in Jun 2008) Nov 2008 2009 2010 2011Haemoglobin (13-17 g/dL) 8.8 8.9 11 10.5 13.8 14.6 14.4 15.7Platelet (150-400 x109/L) 60 59 58 107 100 167 262 124Campesterol (<17.5 µmol/L) 489 329 266 - - 199 196 192Stigmasterol (<3 µmol/L) 38.9 31 19 - - 22.3 24.8 27.6Beta-sitosterol (<12 µmol/L) 880 548 617 - - 443 345 360Hung and Lee International Journal of Pediatric Endocrinology 2013, 2013(Suppl 1):P174http://www.ijpeonline.com/content/2013/S1/P174© 2013 Hung and Lee; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction in any medium, provided the original work is properly cited.In conclusion, Ezetimibe treatment was effective inlowering the plasma cholesterol and sterols level in ourpatient with sitosterolaemia. It is also effective in reversingthe stomatolyticanaemia and thrombocytopenia.Authors’ details1Department of Paediatrics and Adolescent Medicine, Princess MargaretHospital, Hong Kong, SAR. 2Department of Paediatrics and AdolescentMedicine, Caritas Medical Center, Hong Kong, SAR.Published: 3 October 2013References1. Cheng WF, Yuen YP, et al: Sitosterolaemia and xanthomatosis in a child.Hong Kong Med J 2003, 9:206-209.2. Rees DC, Iolascon A, et al: Stomatocytichaemolysis andmacrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation ofphytosterolaemia. British Journal of Haematology 2005, 130:297-309.3. Salen G, von Bergmann K, et al: Ezetimibe effectively reduces plasmaplant sterols in patients with sitosterolemia. Circulation 2004, 109:966-971.4. Salen G, Starc T, et al: Intestinal cholesterol absorption inhibitor Ezetimibeadded to cholestyramine for sitosterolemia and xanthomatosis.Gastroenterology 2006, 130:1853-1857.5. Lutjohann D, von Bergmann K, et al: Long-term efficacy and safety ofezetimibe 10mg in patients with homozygous sitosterolemia: a 2-year,open-label extension study. Int J ClinPract 2008, 62:1499-1510.6. Niu DM, Chong KW, et al: Clinical observations, molecular geneticanalysis, and treatment of sitosterolemia in infants and children. J InheritMetab Dis 2010, 33:437-443.doi:10.1186/1687-9856-2013-S1-P174Cite this article as: Hung and Lee: A case of sitosterolaemia withstomatocyticanaemia and thrombocytopenia treated with Ezetimibewith good response. International Journal of Pediatric Endocrinology 20132013(Suppl 1):P174.Submit your next manuscript to BioMed Centraland take full advantage of: • Convenient online submission• Thorough peer review• No space constraints or color figure charges• Immediate publication on acceptance• Inclusion in PubMed, CAS, Scopus and Google Scholar• Research which is freely available for redistributionSubmit your manuscript at www.biomedcentral.com/submitHung and Lee International Journal of Pediatric Endocrinology 2013, 2013(Suppl 1):P174http://www.ijpeonline.com/content/2013/S1/P174Page 2 of 2

A case of sitosterolaemia with stomatocyticanaemia and thrombocytopenia treated with Ezetimibe with good response

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A case of sitosterolaemia with stomatocyticanaemia and thrombocytopenia treated with Ezetimibe with good response

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