Q:

6/10/2014
I have 50 year-old female with + atrophic gastritis and sero neg. RA/Polyarthritis. She tried different DMARD's but eventually she responds well to Anti-TNF Rx. Over last 1-2 years she has been getting delayed IBS/FPIES like symptoms (2-3 hrs post prandial abd. cramping/diarrhea/nausea s/s) with seafood's etc. Nausea responds to ZOfran; Steroid helps. Her Skin/RAST tests to suspected foods all negative; All autoimmune w/u in past is normal; Her Tryptase normal; Her 24 hrs urine test for Histamine; Pheo/Carcinoid normal; Her total IgE is <100 but Anti-IgE receptor ab's came elevated 25% (normal 0-5%); She has been frustrated since her IBS issues occurs randomly; Her CT abd/Pelvis is normal; Recent EGD/Colonoscopy-Small intestine, proximal jejunum, Stomach biopsy: Findings consistent with mastocytic enteritis; She has been on H1&H2#'s. Can add trail of Gastrocrom; May consider BMA/Bx for CD25 & C-kit. Anything else I can offer or consider?

A:

Thank you for your inquiry.

The term "mastocytic enterocolitis" was fairly recently coined to describe patients with intractable diarrhea who had what the authors interpreted as an increased number of mast cells in the colon and lower duodenum (1). I might mention parenthetically that, according to your inquiry, your patient's biopsy was obtained from the stomach, a site which is not frequently used to establish this diagnosis. After the article by Jakate, et al., there was some controversy as to the existence of this diagnosis as a distinct entity, but by 2010 (approximately 4 years after the original report), other authors began to issue follow-up studies, and the condition, to the best of my knowledge, is now accepted as a distinct entity.

One of the lead articles in this acceptance (2) was published about 4 years after the original report. Ramsay and Associates, in the 2010 article, also spoke of the treatments that have been used in the attempt to control the symptoms. These treatments are:

1. H1/H2 antihistamines.

2. Cromolyn sodium.

3. Antileukotriene agents.

4. Swallowed budesonide in doses of 9 mg daily.

5. Also exclusion diets have been tried.

Evidently none of these have been universally effective, but all of these are considered potentially useful.

You are correct in noting that mastocytic enterocolitis can be a manifestation of systemic mastocytosis, and certainly an attempt to establish whether this is the case is justified, especially if the patient expresses other systemic symptoms such as flushing, anaphylaxis, et cetera. The ideal test, of course, is a bone marrow since in my opinion you cannot make a diagnosis of mastocytosis based upon the isolated findings of gastrointestinal mast cells. They can also be increased in other gastrointestinal diseases including irritable bowel syndrome where they have been found in the cecum terminal ileum and jejunum. If you did not wish to perform a bone marrow at this time, you could also do a screening test using an 816V mutational analysis on peripheral blood.

Mastocytic Enterocolitis: Increased Mucosal Mast Cells in Chronic Intractable Diarrhea

Mast Cells in Gastrointestinal Disease

Finally, there is a brief report of this condition in the Annals of Allergy, Asthma, and Immunology (3).

In summary, there is no definitive treatment for this condition, but the medications noted above have all been tried and have been successful to varying extents. The only further workup that I would personally consider at this time would be an evaluation for mastocytosis, and the best way to establish this diagnosis would be to do a biopsy, but you can also consider a screening 816V mutation analysis on peripheral blood.

Finally, I think it is important to consider that the finding of mast cells is not specific for this diagnosis, and in your case, the biopsy site is not usually used to establish this entity. So a differential diagnosis is important to keep in mind.

Thank you again for your inquiry and we hope this response is helpful to you.

References:
1. Jakate, et al. Mastocytic enterocolitis increased mucosal mast cells in chronic intractable diarrhea. Archives of Pathology and Laboratory Medicine 2006; 130(3).

2. Ramsay DD, et al. Mast cells and gastrointestinal disease. Gastroenterology and Hepatology 2010 (December);Volume 6, Issue 12.

3. Ogilvie McDaniel C, et al. Mastocytic enterocolitis: a newly described mast cell entity. Annals of Allergy, Asthma, and Immunology 2008; 101(6):645-646.

Sincerely,
Phil Lieberman, M.D.
 

AAAAI - American Academy of Allergy Asthma & Immunology