Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: Case report and brief review

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 5, 2014, Pages 1512-1518

  Park, Joong Heum ^a   Chung, In Hyuk ^a   Kim, Dong Hyun ^a   Choi, Man Ho ^b   Garg, Abhimanyu ^c   Yoo, Eun Gyong ^a  

^a CHA University   (South Korea)

^b Korea Institute of Science and Technology   (South Korea)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER G5; CHOLESTEROL; COLESTYRAMINE; EZETIMIBE; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SITOSTEROL; TRIACYLGLYCEROL;

ABCG5 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BREAST FEEDING; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; DISEASE SEVERITY; DRUG DOSE REDUCTION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; INTERTRIGINOUS XANTHOMA; INTESTINE FUNCTION DISORDER; KOREAN (PEOPLE); LOW FAT DIET; MASS FRAGMENTOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SITOSTEROLEMIA; SKIN BIOPSY; SKIN DEFECT; SKIN EXAMINATION; TREATMENT RESPONSE; XANTHOMA;

ATP-BINDING CASSETTE TRANSPORTERS; DIET, FAT-RESTRICTED; FEMALE; HUMANS; HYPERCHOLESTEROLEMIA; INFANT; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; PHYTOSTEROLS; TREATMENT OUTCOME; XANTHOGRANULOMA, JUVENILE;

EID: 84899925117     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3274     Document Type: Article

References (30)

1. Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000;290:1771-1775.
2. Lu K, LeeMH,Hazard S, et al.Twogenes thatmapto the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded byABCG5andABCG8, respectively. Am J Hum Genet. 2001;69:278-290.
3. Salen G, Shefer S, Nguyen L, Ness GC, Tint GS, Shore V. Sitosterolemia. J Lipid Res. 1992;33:945-955.
4. Bhattacharyya A, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974;53:1033-1043.
5. Miettinen T. Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. Eur J Clin Invest. 1980;10:27-35.
6. NiuDM,ChongKW,Hsu JH, et al. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. J Inherit Metab Dis. 2010;33:437-443.
7. Sethuraman G Sugandhan S Sharma G et al. Familial homozygous hypercholesterolemia: report of two patients and review of the literature Pediatr Dermatol. 2007 24 230-234.
8. Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A, et al. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. Hum Genet. 2005;116: 114-120.
9. Manchanda Y, Sharma VK. Intertriginous xanthomas: a marker of homozygous type IIa hyperlipoproteinemia. Int J Dermatol. 2004; 43:676-677.
10. Beaty TH, Kwiterovich PO Jr., Khoury MJ, et al. Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. Am J Hum Genet. 1986;38:492-504.
11. Izar MC, Tegani DM, Kasmas SH, Fonseca FA. Phytosterols and phytosterolemia: gene-diet interactions. Genes Nutr. 2011;6: 17-26.
12. Calandra S, Tarugi P, Speedy HE, Dean AF, Bertolini S, Shoulders CC. Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classificat ion and disease risk. J Lipid Res. 2011;52:1885-1926.
13. Togo M, Hashimoto Y, Iso-O N, et al. Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. Clin Chim Acta. 2009;401:165-169.
14. Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol. 2008;61:588-594.
15. Wilund KR, Yu L, Xu F, et al. No association between plasma levels of plant sterols and atherosclerosis in mice and men. Arterioscler Thromb Vasc Biol. 2004;24:2326-2332.
16. Merkens LS, M yrie SB, Steiner RD, Mymin D. Sitosterolemia. GeneReviews. Seattle, WA: University of Washington. http://www.ncbi.nlm.nih.gov/books/ NBK131810/. Updated April 4, 2013; accessed November 25, 2013.
17. L ütjohann D, von Bergmann K, Sirah W, et al. Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. Int J Clin Pract. 2008;62:1499-1510.
18. Gregg RE, Connor WE, Lin DS, Brewer HB Jr. Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. J Clin Invest. 1986;77:1864-1872.
19. Kavey RE, Allada V, Daniels SR, et al. Cardiovascular risk reduction in high-risk pediatric patients: a scientific statement from the American Heart Association Expert Panel on Population and Prevention Science; the Councils on Card i ovascular Disease in the Young, Epidemiology and Prevention, Nutrition, Physical Activity and Metabolism, High Blood Pressure Research, Cardiovascular Nursing, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research: endorsed by the American Academy of Pediatrics. Circulation. 2006;114:2710-2738.
20. Simell O, Niinikoski H, Rönnemaa T, et al. Special Turku Coronary Risk Factor Intervention Project for Babies (STRIP).AmJ Clin Nutr. 2000;72:1316S-1331S.
21. Honda A, Salen G, Nguyen LB, Tint GS, Batta AK, Shefer S. Downregulation of cholesterol biosynthesis in sitosterolemia: diminished a ctivities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol-7-reductase in liver and mononuclear leukocytes. J Lipid Res. 1998;39:44-50.
22. Yang C, Yu L, Li W, Xu F, Cohen JC, Hobbs HH. Disruption of cholesterol homeostasis by plant sterols. J Clin Invest. 2004;114: 813-822.
23. Plat J, Nichols JA, Mensink RP. Plant sterols and stanols: effects on mixed micellar composition and LXR (target gene) activation. J Lipid Res. 2005;46:2468-2476.
24. Nguyen L, Salen G, Shefer S, Shore V, Tint GS, Ness G. Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. Arteriosclerosis. 1990;10:289-297.
25. Wang J, Joy T, Mymin D, Frohlich J, Hegele RA. Phenotypic heterogeneity of sitosterolemia. J Lipid Res. 2004;45:2361-2367.
26. Expert Panel on Integrated Guidelines for Cardio vascular Health and Risk Reduction in Children and Adolescents; National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics. 2011;128(suppl 5):S213-S256.
27. Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet. 2010;19:4313-4318.
28. Kamelska AM Pietrzak-Fiecko R Bryl K. Variation of the cholesterol content in breast milk during 10 days collection at early stages of lactation Acta Biochimica Polo nica. 2012 59 243-247.
29. Kolovou G, Voudris V, Drogari E, Palatianos G, Cokkinos DV. Coronary bypass grafts in a young girl with sitosterolemia. Eur Heart J. 1996;17:965-966.
30. Bao L, Li Y, Deng SX, Landry D, Tabas I. Sitosterol-containing lipoproteins trigger free sterol-induced caspase-independent death in ACAT-competent macrophages. J Biol Chem. 2006;281:3 3635-33649.