A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy

Abstract

A 29-year-old woman reported intermittent diarrhea associated with abdominal pain for 7 years. Two years after the onset of symptoms, she received a diagnosis of Whipple’s disease on the basis of previous endoscopy. The patient was treated with continuous sulfamethoxazole and trimethoprim, but there was no improvement of the condition. Recently, she was admitted for repeated endoscopy, which revealed multiple yellowish, elevated, coalescent lesions in the second duodenal portion (A, B, C). Anatomopathologic examination showed infiltration of xanthomatous macrophages, compatible with duodenal xanthomas.