Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry.

Autor:	Kirino Y; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maeda A; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Asano T; Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan., Migita K; Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan., Hidaka Y; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan., Ida H; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan., Kobayashi D; Division of Clinical Nephrology and Rheumatology, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Oda N; Division of Rheumatology, Department of Internal Medicine, Kameda Medical Center, Kamogawa, Japan., Rokutanda R; Division of Rheumatology, Department of Internal Medicine, Kameda Medical Center, Kamogawa, Japan., Fujieda Y; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Atsumi T; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Kishida D; Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan., Kobayashi H; Department of Rheumatology, Tokyo Medical University Hachioji Medical Center, Hachioji, Japan., Shiratsuchi M; Department of Hematology, Iizuka Hospital, Iizuka, Japan., Shimizu T; Departments of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Kawakami A; Departments of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Tanaka K; Department of Respiratory Medicine, Fujieda Municipal General Hospital, Fujieda, Japan., Tsuji T; Department of Rheumatology, Matsuyama Red Cross Hospital, Matsuyama, Japan., Mishima K; Department of Rheumatology, Matsuyama Red Cross Hospital, Matsuyama, Japan., Miyamae T; Department of Pediatric Rheumatology, Institute of Rheumatology, Tokyo Women's Medical University Hospital, Tokyo, Japan., Hasegawa A; Department of Rheumatology, Dokkyo Medical University, Mibu, Japan., Ikeda K; Department of Rheumatology, Dokkyo Medical University, Mibu, Japan., Watanabe T; Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Yamaguchi Y; Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Nishikomori R; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan., Ohara O; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Japan., Nakajima H; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Jazyk:	angličtina
Zdroj:	Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2024 Sep 28. Date of Electronic Publication: 2024 Sep 28.
DOI:	10.1093/rheumatology/keae530
Abstrakt:	Objective: We aimed to gather real-world clinical evidence of detailed disease activity, treatments, remission rates, and adverse events (AEs) associated with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a prospective study. Methods: Patients in Japan suspected of having VEXAS syndrome were enrolled in a registry study. A novel disease activity measure (VEXASCAF) assessing 11 symptoms associated with VEXAS syndrome was evaluated at enrolment and after 3 months. AEs, survival, CRP levels, and treatments were also recorded at enrolment and 3 months after enrolment. All exons of UBA1 were sequenced using a next-generation sequencer to determine the variant allele frequencies of pathogenic variants in the peripheral blood of all patients. Results: Of the 55 registered patients, 30 patients were confirmed to have pathogenic variants of UBA1. All patients were male, with a median age of 73.5 years. VEXASCAF and CRP levels decreased significantly at 3 months post-enrolment, but the oral prednisolone dose did not change. Only two patients achieved complete remission according to FRENVEX at 3 months after enrolment. During the observation period of 6 months, 28 AEs were observed, including 3 deaths, 4 malignancies from two cases, 2 thromboses, and 13 infections (including 4 mycobacterial infections). Inflammation of the lung and cervical region (i.e. parotid and submandibular gland swelling, tonsillitis, cervical swelling, and pain) were the most common AEs. Conclusions: Patients with VEXAS syndrome required high-dose glucocorticoids to achieve remission, and complications-such as malignancy, thrombosis, and infection-occurred frequently within a short observation period. (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
Databáze:	MEDLINE
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