Gastrointestinal xanthomas are infrequent non-neoplastic lesions characterized by the accumulation of foam cells in the lamina propria. They are commonly seen in association with dyslipidemia, chemotherapy or radiotherapy, and infections in immunosuppressed patients. However, no clear connection to hyperlipidemia has been found. They occur more frequently in the stomach, and are very rare in the small bowel and esophagus. We identified all cases of non-gastric xanthoma or xanthomatosis reported in the English literature by searching the PubMed database and retrospectively reviewed the clinical, endoscopic, and histopathologic features of the 11 cases of non-gastric gastrointestinal xanthomas diagnosed in our hospital. Nine lesions were located in the large bowel, one in the duodenum and one in the esophagus. All xanthomas were small (<5 mm) sessile polyps except the esophageal xanthoma, which measured 13 mm. Two cases in the large bowel and the case in the small bowel were multiple. Most patients with large bowel xanthomas had hypercholesterolemia, unlike esophageal and small bowel cases. The esophageal lesion occurred in a patient with a history of partial fundoplication due to gastroesophageal reflux disease and the small bowel case was associated to chronic atrophic gastritis with intense activity. In our search of the English literature, we found 19 cases of xanthoma or xanthomatosis in the esophagus, 13 cases in the small bowel and 61 cases in the large bowel. In conclusion, gastrointestinal xanthomas, other than the gastric ones, are rare, and are usually incidental findings.

Abbreviations: AIDS: Acquired immunodeficiency syndrome; CESD: Cholesterol ester storage disease; ChT: Chemotherapy; CMV: Cytomegalovirus; GERD: Gastroesophageal reflux disease; HCL: Hypercholesterolemia; HCV: Hepatitis C virus; HPV: Human papilloma virus; MAI: Mycobacterium avium intracellulare; PCR: Polymerase chain reaction; RT: Radiotherapy.


xanthelasma, xanthoma, xanthomatosis, esophagus, small bowel, large bowel