Non-gastric Gastrointestinal Xanthomas: Case Series and Literature Review

Abstract

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.

Endoscopic appearance of esophageal xanthoma

“…In the present study, using non-magnifying endoscopy, four lesions were present as flat areas with yellowish granular spots and three appeared as slightly elevated yellowish lesions; median size of the lesions was 2 mm (range, 1 – 5 mm). These findings are consistent with those reported in previous articles 4 5 6 7 8 9 10 11 12 13 14 15 16 17 . Lesions presenting as flat areas with yellowish granular spots are unique, even in non-magnifying endoscopic appearance.…”

“…In this regard, esophageal xanthoma is speculated to be a high risk marker for the development of esophageal or head and neck cancers, in the same way that gastric xanthoma is suggested to be a high risk marker for gastric cancers 2 . According to previous case reports of esophageal xanthoma, 10 of 15 patients were men 4 5 6 7 9 10 11 12 13 14 15 16 17 . Similarly, in the present study, the lesions were detected mainly in men.…”

“…Due to their rareness, the characteristic endoscopic appearance, etiology, and clinical significance of esophageal xanthomas are not well known. Previous reports have suggested the endoscopic findings of esophageal xanthomas to be yellowish granular spots, yellowish elevated lesions, yellow-white colored plaques, or yellow verruciform lesions, measuring from 2 to 20 mm (usually ≤ 5 mm) 4 5 6 7 8 9 10 11 12 13 14 15 16 17 . However, no previous report has described the magnifying endoscopic appearance of esophageal xanthomas.…”

“…However, as all four patients also had a history of drinking, smoking, and esophageal or head and neck cancers, the role of radiation therapy remains unknown. To date, no apparent relationship between esophageal xanthoma and hyperlipidemia has been indicated 15 .…”

“…As such, endoscopic characteristics have been established within the Japanese population and the lesion is usually only diagnosed by endoscopic findings and without the use of biopsies. However, since esophageal xanthomas are rare, and only 17 cases have been described in the English literature before the present study 4 5 6 7 8 9 10 11 12 13 14 15 16 17 , endoscopic diagnosis of esophageal xanthomas have not been thoroughly investigated. In this study, therefore, using magnifying or image-enhanced endoscopy, we examined the endoscopic appearance of esophageal xanthomas which were diagnosed histologically in our hospital.…”