[CIS PIDD] [cis-pidd] Mastocytosis, CVID, or something else

Thu Sep 25 19:15:28 EDT 2014

I wonder whether IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy X-linked) has already been excluded? I recall a similar case that ended up with that diagnosis.

More often than not food induced anaphylactic reactions do not result in elevated tryptase levels. Also basophils may sometimes be the culprit of the  release histamine and other mediators of anaphylaxis without any elevation of tryptase.

Very interesting case, please provide updates as you explore and learn more about the underlying mechanism.

Best wishes,
Soheil

Soheil Chegini, M.D.
Exton Allergy & Asthma
Associates
656 West Lincoln Hwy.
Exton, PA 19341
Phone: (610) 269-3066
Fax: (610) 269-8615

On Thursday, September 25, 2014 4:03 PM, Nick Bennett <njb35 at cantab.net> wrote:

Hi All,

I'm looking for help with a particularly difficult case.

Now 3yo I met him a year ago - many many allergy symptoms, recurrent anaphylaxis to foods and environmental triggers. Diagnosis of FPIES with an endoscopy/biopsy showing eosinophilia and mast cells in the GI tract (by report, I've not seen that to confirm). He requires severe dietary restriction and G tube feeds to maintain weight, and that at least is ok at the moment (he had severe failure to thrive as an infant). He was unable to tolerate anything except elemental food from about 4 months of age. Interestingly his symptoms of anaphylaxis are typically hives plus a weird "gagging" that he does. I've witnessed this and it's like his orophyarnx is swelling and causing him to choke, but I don't see any outward swelling, wheezing, hypotension etc. He will get very lethargic untill it is treated.

Multiple respiratory infections requiring antibiotics, CF workup negative. Immune evaluation has previously revealed low Hib and pneumococcal titers which responded to boosting, and then (when I saw him) had dropped off considerably. I diagnosed him as a possible CVID with B cell memory issues and started IVIG. From an infection standpoint that has improved things quite a bit. He is very sensitive to the IVIG and is the only child I currently have who I've seen throw off an anaphylactoid reaction mid-infusion. For a while we second-guessed ourselves and stopped the IVIG, but he got sick again so quickly it was restarted. Memory B cells on flow about a year ago were 9.1%. The rest of his flow cytometry is otherwise unremarkable, with normal total and precentages for CD4, CD8, CD4:CD8 ratio and CD19 B Cells.

He continues to experience food and environmental allergies requiring the use of epinephrine and antihistamines at times. IgE is only 100-150 when we've checked it.

I revisited his story recently with his mother during one of the IVIG infusions and wondered about mastocytosis. I started sodium cromolyn with initially perhaps some improvement, but he since then had anaphylaxis again to dog hair (a common trigger for him) and at that time tryptase was 2, which I took personal offence to as it appeared to contradict my idea about mastocytosis! This was several weeks into the cromolyn treatment so I had expected some preventative effect if mast cell degranulation was the issue.

Any and all insight would be appreciated. He's been seen by folks at Boston and Cincinnati already so some on this list may know him.

Cheers

Bennett

-- 
Nicholas Bennett MA(Cantab), MBBChir, PhD, FAAP
Assistant Professor of Pediatrics
Co-Director of Antimicrobial Stewardship
Medical Director, Division of Pediatric Infectious Diseases and Immunology 
Connecticut Children's Medical Center,
282 Washington Street,
Hartford, CT 06106
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