A 38-year-old Myanmar Thai gentleman with known case of hemoglobin E disease presenting to us with anemia (Hemoglobin 7.3 g%) for further endoscopic evaluation. He had a history of severe acute gastroenteritis (diarrhea and vomiting for 2 days) one month ago requiring hospital admission where he was found to have anemia. He had a history of unhealed perianal abscess for six months duration. No obvious discharge was recognized. Physical examination did not find any abnormalities.
Upper GI endoscopy showed multiple apthous ulcers from first part of duodenum to proximal jejunum (the upper GI endoscopy ended).
Colonoscopy showed similar multiple apthous ulcers inside the terminal ileum from IC valve to 20 cm away from IC valve.
Biopsy from duodenum and jejunal ulcers and terminal ileum ulcers were examined by two pathologists.
Both pathologists reported erosive duodenum and jejunum mucosa densely infiltrated by lymphocytes, plasma cells, eosinophils and histiocytes. One pathologist suspected mastocytosis so that IHC CD117 staining was performed which turned out to be positive (about 60 mast cells/HPF). IHC CD25 staining is not available.
Differential diagnosis : (1) small bowel Crohn's disease (? perianal fistula)
(2) mastocytosis (based on histology report)
What is your opinion regarding diagnosis?
Should we proceed further investigations for mastocytosis (bone marrow etc)?
We are waiting for the expert's comment