Canakinumab is effective for refractory Entero-Behçet’s disease with compound heterozygous variants of the MEFV gene: A case report

Abstract

Rationale: Behçet’s disease (BD) is characterized by recurrent oral ulcers, skin lesions, genital ulcers, and ocular inflammation, with uncontrolled gastrointestinal manifestations potentially leading to fatal complications. Human leukocyte antigen (HLA) class I alleles such as HLA-B51 and HLA-A26 are genetic risk factors for BD, and interleukin-1β activation plays a key role in BD pathogenesis. Familial Mediterranean fever, another autoinflammatory disease caused by MEFV gene mutations, shares similarities with BD, including enhanced interleukin-1β production. Patient concerns: We present a case of BD with severe gastrointestinal ulcers and MEFV variants treated with canakinumab. Diagnoses: A 69-year-old Japanese woman with a history of malignant lymphomas and nontuberculous mycobacterial arthritis developed BD symptoms, including oral and gastrointestinal ulcers. Interventions: Despite after treatments with 2 tumor necrosis factor inhibitors, her oral and gastrointestinal ulcers persisted. Genetic analysis revealed L110P/E148Q MEFV variants, prompting the administration of canakinumab and granulocyte and monocyte adsorption apheresis. Outcomes: Continuous treatment with canakinumab improved the oral and gastrointestinal ulcers. Lessons: This case highlights the potential efficacy of canakinumab in treating severe gastrointestinal ulcers in BD patients with MEFV variants.