Q:


4/28/2014
I have a new patient who was diagnosed with urticaria pigmentosa as a child. She developed some systemic symptoms over the years. She was treated with PUVA light therapy, antihistamines and cromolyn sodium in the past. Her baseline tryptase level was 18 in 2011; BM biopsy in 2011 revealed 5-7% mast cells, was negative for c-KIT mutation but positive for one minor criterion (her mast cells co-expressed CD117 with CD2 and/or CD25). So diagnostic criteria for systemic mastocytosis were not met. She had a baby 18 months ago so had put her own care on hold. She came to see me because she is having worsening systemic symptoms-fatigue, achy joints/bones, decreased concentration.
 

I restarted antihistamines (H1 and H2 qd with goal to increase to bid). I am considering adding Singulair if needed.

I am rechecking a baseline tryptase level.

I prescribed an Epipen (no h/o anaphylaxis).

I'm planning to order a DEXA scan to r/o osteopenia/osteoporosis (she never had one).

I spoke with her hematologist from 2011 who has never had a patient with mastocytosis but is willing to do a repeat BM biopsy.


I'm wondering if there are any guidelines for repeat BM biopsy? I think she warrants one given her systemic symptoms. Do you know of any hematologists who are experts on this disease? Also, is there anything else I should be doing for this patient in terms of workup, management (other medications to use like cromolyn?), surveillence?
 

A:

Thank you for your inquiry.

There are no definitive criteria as to when to do a repeat bone marrow. However, in your patient, I think a bone marrow at this time is clearly indicated. The diagnosis of mastocytosis is not infrequently missed, and I think that you are prudent in considering sending your patient to a center which has experience with mastocytosis and mast cell activating disorders. I know of a few centers which you could consider. These are:

1. The Center for Mast Cell Disorders at Brigham in Boston under the aegis of Dr. Mariana Castells and Cem Akin.

2. The Mayo Clinic in Rochester, Minnesota. Dr. Butterfield at this institution has a special interest in mastocytosis.

3. Dr. Lawrence Schwartz at Virginia Commonwealth University.

In the meantime, the workup and treatment that you have planned is appropriate. You might also consider the following:

1. Adding cromolyn sodium as you mentioned.

2. Adding ketotifen 100 mg b.i.d. (this drug can be purchased online from either Canada or Great Britain).

3. As a screen for a bone marrow, performing an 816V mutation analysis on whole blood.

Finally, the following references would be of help to you:

1. Akin C1, Valent Diagnostic Criteria and Classification of Mastocytosis in 2014 . Immunol Allergy Clin North Am. 2014 May;34(2):207-218. doi: 10.1016/j.iac.2014.02.003.

2. Lee MJ, Akin C. Mast cell activation syndromes. Ann Allergy Asthma Immunol. 2013 Jul;111(1):5-8. doi: 10.1016/j.anai.2013.02.008. Review

3. Hamilton MJ, Hornick JL, Akin C, Castells MC, Greenberger NJ. Mast cell activation syndrome: a newly recognized disorder with systemic clinical manifestations.

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

Sincerely,
Phil Lieberman, M.D.

AAAAI - American Academy of Allergy Asthma & Immunology