Arteriohepatic dysplasia, or Alagille syndrome, is a genetic disorder characterized by chronic cholestasis in the setting of multiple congenital abnormalities of different organ systems, including cardiovascular, skeletal, and integumentary. Xanthomata are frequently found as a cutaneous manifestation of Alagille syndrome, the pathogenesis of which is uncertain. Here we present the case of a 9-year-old girl with Alagille syndrome whose widespread xanthomata spontaneously and rapidly regressed following orthotopic liver transplantation. Secondary dyslipidemia can arise in severe cholestasis and may be the driving force for xanthoma formation in patients with Alagille syndrome. The pathogenesis of xanthomata involves the formation of “foam cells,” or lipid-laden histiocytes. This bears marked similarity with the pathogenesis of atheromata and atheromatous plaques, thus raising questions regarding the cardiovascular prognosis of patients with Alagille syndrome with widespread xanthomata. While xanthomata may be associated with markedly decreased life span in the context of chronic dyslipidemia, more immediate risk factors for morbidity and mortality in Alagille patients include the severity of cholestasis, the severity of congenital cardiac and vascular abnormalities, and the extent of liver injury.

CITATION INFORMATION: Galvan N, Nguyen P, Koohmaraie S, Cotton R, Rana A, O'Mahony C, Goss J. Rapid Regression of Xanthomata After Orthotopic Liver Tranplantation for Alagille Syndrome. Am J Transplant. 2017;17 (suppl 3).

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