TUBEROUS XANTHOMA :A RARE PRESENTATION OF FAMILIAL HYPERCHOLESTEROLEMIA
Keywords:
Xanthomas, Familial hypercholesterolemia, LDL-C
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated plasma levels of low-density lipoprotein-cholesterol (LDL-C).FH often leads to ac-cumulation of holesterol in the skin, where xanthomas can occur. We report a case of FH in an 11 year old female child which is alerted by multiple nodular lesions over the buttock, knee and elbow. Lipid profile showed elevated serum levels of LDL-C in the child and her mother. Biop-sy taken from the lesion showed focal aggregates of foamy macrophages with a conclusion of Tuberous Xanthoma.
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References
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CONCLUSION Xanthomas are manifestations of an underly- ing lipid disorder. Therefore patients as well as their family members should be screened for lipid profiles so that appropriate medica-tions can be started earlier to delay the devel-opment of premature CGHAD. In our pa-tient, we couldn’t trace the father and hence we considered heFH because of epidemio-logic reason.¹ Conflict of Interests : None. Kroon AA, Ajubi N, van Asten WN, Stalenhoef AF. The prevalence of peripheral vascular disease in familial hypercholesterolaemia. J Intern Med 1995;238: 451–459. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE. Familial hypercholesterolemia: screening, diagnosis and management of pediat-ric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J ClinLipidol2011;5:133–140. Identification and management of familial hypercholesterolaemia. NICE clinical guideline, CG 71. National Institute for Health and Clinical Excellence website 2008. http://www.nice.org.uk/cg71 (12 February 2013).
CONCLUSION Xanthomas are manifestations of an underly- ing lipid disorder. Therefore patients as well as their family members should be screened for lipid profiles so that appropriate medica-tions can be started earlier to delay the devel-opment of premature CGHAD. In our pa-tient, we couldn’t trace the father and hence we considered heFH because of epidemio-logic reason.¹ Conflict of Interests : None. Kroon AA, Ajubi N, van Asten WN, Stalenhoef AF. The prevalence of peripheral vascular disease in familial hypercholesterolaemia. J Intern Med 1995;238: 451–459. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE. Familial hypercholesterolemia: screening, diagnosis and management of pediat-ric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J ClinLipidol2011;5:133–140. Identification and management of familial hypercholesterolaemia. NICE clinical guideline, CG 71. National Institute for Health and Clinical Excellence website 2008. http://www.nice.org.uk/cg71 (12 February 2013).
Published
2016-01-11
Section
Articles