Session Title: Miscellaneous Rheumatic and Inflammatory Diseases
Session Type: Abstract Submissions (ACR)
NOD2-associated autoinflammatory disease (NAID) is a newly described autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, gastrointestinal and sicca symptoms. It is genotypically associated with NOD2. Its clinical phenotype may superficially resemble familial Mediterranean fever (FMF). We report a case series to illustrate the similarities and differences between these two autoinflammatory diseases.
Three patients with NAID or FMF were cared for by the authors between 2012 and 2014, and their phenotypes and genotypes were retrospectively studied. Genetic testing for MEFV and NOD2 mutations was performed.
The clinical phenotypes and genotypes of these patients are summarized (Table). Patient 1 presented with recurrent fever, abdominal pain/diarrhea, chest pain, and arthralgia since the age of 5 years. Her symptoms responded well to colchicine, and FMF was diagnosed in the presence of heterozygous K695R. Patient 2 is the niece of patient 1 and presented with symptoms since the age of 17 years and shared the similar phenotypes with her aunt except the presence of recurrent erythematous patches of the skin and longer lasting gastrointestinal symptoms. FMF was suspected, but she had a transiently mild response to colchicine. Genetic testing identified the NOD2 mutations IVS8+158 and R702W and negative MEFV. NAID was diagnosed with a complete response to oral sulfasalazine. Patient 3 is a man and presented with recurrent fever and abdominal pain/diarrhea since the age of 17 years, with mild response to colchicine. Genetic testing identified heterozygous M694V in the MEFV and NOD2 mutation IVS8+158.
Both NAID and FMF appear similar phenotypically, but they are distinct. The symptoms can last longer than 3 days, and spongiotic dermatitis is common in NAID, whereas erysipelas-like erythema with sparse infiltrate on the lower extremities is a feature of FMF. NAID does not respond to colchicine. Both MEFV and NOD2 genes are located on chromosome 16 and share similar gene structures. This case study suggests that these two diseases could be remotely related.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/is-nod2-associated-autoinflammatory-disease-remotely-related-to-familial-mediterranean-fever-or-continuum-of-it/