Background: Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever and serositis, prevalent among Eastern Mediterranean populations. Colchicine is widely used to prevent FMF attacks and the development of secondary amyloidosis. However, 5-10% of FMF patients show inadequate response or resistance to colchicine treatment. We report a 6-year-old patient with chronic kidney disease (CKD) and colchicine-resistant FMF. Despite colchicine treatment, she experienced recurrent attacks and side effects. She ultimately benefited from IL-1 antagonists, both before and after renal transplantation, leading to complete symptom resolution.
Case presentation: A 6-year-old female with CHARGE syndrome was diagnosed with FMF in 2017. Genetic analysis revealed a compound heterozygous mutation (R202Q/V726A) in the MEFV gene, along with amyloidosis A-associated kidney impairment. Despite initiating colchicine therapy, she experienced recurrent moderate FMF attacks and significant colchicine-related side effects, ultimately requiring IL-1 receptor antagonist therapy, which she tolerated well. Her symptoms resolved, but her renal function continued to deteriorate, leading to a diagnosis of CKD. In 2020, she underwent a successful kidney transplantation from a living related donor. Post-transplant, her renal function improved, and she was switched back to colchicine. However, six months after transplantation, FMF attacks recurred and could not be controlled with colchicine. Despite dose titration, she experienced severe colchicine-associated side effects, including vomiting, diarrhea, and abdominal discomfort. As a result, colchicine was discontinued, and she was restarted on IL-1 receptor antagonist therapy in 2021. Following re-initiation of IL-1 receptor antagonist therapy, all FMF symptoms completely resolved, and she remained attack-free with excellent drug tolerance thereafter.
Conclusion: This case demonstrates the successful treatment of colchicine-resistant, severe FMF flares with IL-1 receptor antagonist in a kidney transplant recipient. Therefore, anti-IL-1 therapy should be considered as an alternative treatment strategy for patients with resistant or refractory FMF, particularly when established treatment options are ineffective, and it can be used even after kidney transplantation.