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Topics: Rheumatology • General Rheumatology • Autoinflammatory disorders • Gastroenterology • Allergy & Immunology • Dermatology • Primary Immunodeficiency • Urticaria/Angioedema • Familial Mediterranean Fever

How would you approach diagnosis of a patient with recurrent episodes of abdominal pain, severe myalgias, low grade fevers and urticaria?   

Does this presentation fall within the autoinflammatory spectrum, and is it consistent with FMF or would you consider another cytokine-driven process? The episodes last 3-7 days and resolve spontaneously. Maximum temperature 100.5F. Patient with heterozygous pathogenic MEFV variant.



Answer from: at Academic Institution
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 ...
Comments
at Arthritis Clinic of Central Texas
Hi Drs. Nolan, Colbum, and Edens. Thank you so muc...
at University of Chicago
Unless Colchicine interacts with her other medicat...
at Arthritis Clinic of Central Texas
TID Colchicine and the side effects of abd pain, h...
at University of California San Diego
From a dermatologic perspective, I'd do a skin bio...
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Answer from: at Community Practice
Dr. @Hassan Alissa: 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 autoi...
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Answer from: at Community Practice
Thank you for your rec. the SLE panel, C1q and SOEP were done. The rest of rec will implement soon. Thanks again!
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Answer from: at Academic Institution
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, ...
Comments
at Arthritis Clinic of Central Texas
Thank you!! I am assuming these are not commercia...
at National Institutes of Health
Agree, several factors are concerning for a diagno...
at University of Chicago
@Hassan Alissa, Has the patient been tried on colc...
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