How would you approach diagnosis of a patient with recurrent episodes of abdominal pain, severe myalgias, low grade fevers and urticaria?
Without the mEFV variant, from a rheumatologist viewpoint, the differential includes IBD, a periodic fever syndrome such as FMF or FCAS, and MCAS. Therefore, I would consider that workup with genetic testing (anyone can send!), fecal calprotectin, and MCAS eval with A/I. I don't think of urticarial ...
Dr. @Dr. First Last: What a tough case. You may have already done these, but I'd add...
Consider minor salivary gland bx (Sjogren's dz, SjD, with the severe dry eyes).
BX urticarial lesions (esp if they last longer than 24 hours, considering urticarial vasculitis which can occur with systemic autoim...
Yes, this person should be considered and evaluated for possible autoinflammatory syndrome. Would do a fever diary for 2-3 months and get labs during the acute episodes of symptoms. Pending these results, it may warrant genetic testing.
Urticaria is in my experience a rather uncommon manifestation of FMF, and the duration of fever seems longer than I would expect in FMF flares. If the patient has only had MEFV sequencing I would expand genetic testing to include evaluation for TRAPS, NLRP3-spectrum disease, PLCG2-related diseases, ...