This case report entails the details of a 12-year-old Egyptian boy who had recurrent episodes of shortness of breath, ascites, and pericardial effusions starting at the age of 10, returning with worsening symptoms in April of 2020. The lab findings indicated a critically elevated C-reactive protein (CRP) of 107.2 mg/L; a clinically notable inflammation process was festering. This case was all the more interesting as this boy did not present with a fever, making the diagnosis a difficult one. Nonetheless, genetic Mediterranean fever (MEFv) and polymerase chain reaction (PCR) testing confirmed the diagnosis of familial MEFv. Steroids and colchicine-salicylate decreased the frequency of the attacks and are now on half a dose of colchicine to keep his symptoms at bay. What we see here is the risk-to-benefit ratio of the therapeutic use of colchicine in children outweighs potential side effects such as nausea, vomiting, abdominal pain, diarrhea, kidney or liver failure. However, further research is needed to access better long-term treatment plans. Another key takeaway point that can be highlighted in this case is that the patient does not need to be febrile to diagnose FMF.
Keywords: autoinflammatory disease; colchicine; familial mediterranean fever; infection; rare genetic diseases.
Copyright © 2021, Jaiswal et al.