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?