Lipoprotein Apheresis for Sitosterolemia
Authors: Nagahiko Sakuma, Hayato Tada, Hiroshi Mabuchi, Takeshi Hibino, Hirotake Kasuga
Journal: Annals of Internal Medicine (2017)

Letters19 December 2017Lipoprotein Apheresis for SitosterolemiaNagahiko Sakuma, MD, PhD, Hayato Tada, MD, PhD, Hiroshi Mabuchi, MD, PhD, Takeshi Hibino, MD, PhD, and Hirotake Kasuga, MDNagahiko Sakuma, MD, PhDNagoya City University Graduate School of Medical Sciences, Nagoya, Japan (N.S., T.H.), Hayato Tada, MD, PhDKanazawa University Graduate School of Medicine, Kanazawa, Japan (H.T.), Hiroshi Mabuchi, MD, PhDKanazawa University, Kanazawa, Japan (H.M.), Takeshi Hibino, MD, PhDNagoya City University Graduate School of Medical Sciences, Nagoya, Japan (N.S., T.H.), and Hirotake Kasuga, MDNagoya Kyouritsu Hospital, Nagoya, Japan (H.K.)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/L17-0502 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Sitosterolemia is a rare autosomal recessive disease whose key feature is the inability to diminish uptake in the gut of noncholesterol sterols, such as those of plants and shellfish, or to excrete noncholesterol sterols into the bile (1, 2). It is caused by mutations in the adenosine triphosphate–binding cassette subfamily G member 5 or member 8 (ABCG5 or ABCG8) gene (1). Approximately 100 cases have been reported (1). The clinical manifestations in homozygous sitosterolemic patients are similar to those in patients with homozygous familial hypercholesterolemia. However, the total serum cholesterol levels in patients with homozygous sitosterolemia vary markedly, ranging ...References1. Merkens LS, Myrie SB, Steiner RD, Mymin D. Sitosterolemia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, eds. GeneReviews. Seattle: University of Washington; 1993-2017. [PMID: 20301295] Google Scholar2. Patel SB. Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology. Curr Opin Lipidol. 2014;25:169-75. [PMID: 24811295] doi:10.1097/MOL.0000000000000071 CrossrefMedlineGoogle Scholar3. Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001;27:79-83. [PMID: 11138003] CrossrefMedlineGoogle Scholar4. Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, et al; Hokuriku FH Study Group. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Atherosclerosis. 2014;236:54-61. [PMID: 25014035] doi:10.1016/j.atherosclerosis.2014.06.005 CrossrefMedlineGoogle Scholar5. Matsuzaki M, Hiramori K, Imaizumi T, Kitabatake A, Hishida H, Nomura M, et al. Intravascular ultrasound evaluation of coronary plaque regression by low density lipoprotein-apheresis in familial hypercholesterolemia: the Low Density Lipoprotein-Apheresis Coronary Morphology and Reserve Trial (LACMART). J Am Coll Cardiol. 2002;40:220-7. [PMID: 12106923] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan (N.S., T.H.)Kanazawa University Graduate School of Medicine, Kanazawa, Japan (H.T.)Kanazawa University, Kanazawa, Japan (H.M.)Nagoya Kyouritsu Hospital, Nagoya, Japan (H.K.)Acknowledgment: The authors thank Noriaki Okuda, MD, PhD, for his clinical cooperation.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L17-0502.Reproducible Research Statement:Statistical code and study protocol: Not available. Data set: Available from Dr. Sakuma (e-mail, [email protected]biz).This article was published at Annals.org on 17 October 2017. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byChildren with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5Clinical and genetic features of sitosterolemia in JapanSitosterolemiaDiagnosis and Management of Sitosterolemia 2021Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial SitosterolemiaSerum sitosterol level predicting ABCG5 or ABCG8 genetic mutationsSitosterinämie (Phytosterinämie)Clinical features and genetic analysis of childhood sitosterolemiaPost-prandial Remnant Lipoprotein Metabolism in SitosterolemiaFirst case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genesSitosterolemia, Hypercholesterolemia, and Coronary Artery Disease 19 December 2017Volume 167, Issue 12Page: 896-899KeywordsApheresisArthralgiaCholesterolCommon carotid arteriesElbowFamilial hypercholesterolemiaLipoproteinsMutationSterolsUltrasound imaging ePublished: 17 October 2017 Issue Published: 19 December 2017 Copyright & PermissionsCopyright © 2017 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...