Clinical benefits of TNF-α inhibitors in Chinese adult patients with NLRP3-associated autoinflammatory disease.

BACKGROUND Nucleotide-binding oligomerization domain-like receptor family, pyrin domain containing 3 (NLRP3)-associated autoinflammatory disease (NLRP3-AID) is a rare, heterogeneous disease entity associated with mutations in NLRP3. Biologic therapy for NLRP3-AID yields diverse results. OBJECTIVES We aimed to evaluate the clinical features and outcomes of Chinese adult patients with NLRP3-AID who were treated with tumour necrosis factor (TNF)-α inhibitors. METHODS Five patients with NLRP3-AID were diagnosed and treated with TNF-α inhibitors at Peking Union Medical College Hospital between 2017 and 2020 and were followed up for 6 to 12 months. All patients were systematically studied for treatment outcomes, including clinical manifestations and inflammatory markers. RESULTS All five adult NLRP3-AID patients were Chinese Han, and four patients were males. The mean age at disease onset was 4.2 ± 4.1 years, and the mean time of diagnosis delay was 19.8 ± 6 years. All patients received TNF-α inhibitors with or without methotrexate/prednisone. During follow-up, all patients achieved remarkable clinical remission of skin lesions and polyarthritis and showed improvements in acute-phase reactants, inflammatory cytokines, patient visual analogue scale, physician global assessment and 36-item Short Form (SF-36). CONCLUSIONS Early diagnosis and effective therapy for NLRP3-AID are essential for avoiding irreversible organ damage. TNF-α inhibitors might serve as a therapeutic alternative for patients with NLRP3-AID who have unsatisfactory responses or no access to interleukin-1 inhibitors.