Clinical characteristics and severity classification in mixed connective tissue disease: a nationwide retrospective study.
15 affiliations
- 1The First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
- 2Division of Rheumatology, Toho University, Tokyo, Japan.
- 3Department of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, Tokyo, Japan.
- 4Department of Pediatrics, Nippon Medical School, Tokyo, Japan.
- 5Department of Rheumatology and Clinical Immunology, Wakayama Medical University, Wakayama, Japan.
- 6Department of Allergy and Rheumatology, The University of Tokyo, Tokyo, Japan.
- 7Department of Dermatology, Fujita Health University, Toyoake, Japan.
- 8Division of Rheumatology, Department of Internal Medicine, Fujita Health University, Toyoake, Japan.
- 9Department of Rheumatology, Kobe City Medical Center General Hospital, Kobe, Japan.
- 10Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
- 11Office of Global Affairs, Institute of Science Tokyo, Tokyo, Japan.
- 12Department of Clinical Immunology and Rheumatology, Hiroshima University, Hiroshima, Japan.
- 13Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
- 14Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine, Hokkaido University, Sapporo, Japan.
- 15Department of Molecular Targeted Therapeutics, University of Occupational and Environmental Health, Kitakyushu, Japan.
Abstract
Objectives
To characterize clinical manifestations, major organ involvement, real-world treatment patterns and factors associated with severity classification in Japanese patients with mixed connective tissue disease (MCTD), aiming to clarify its heterogeneous clinical spectrum.Methods
This nationwide retrospective multicentre study analyzed clinical data from 249 patients who strictly fulfilled the 2019 Japanese Ministry of Health, Labour and Welfare diagnostic criteria for MCTD, derived from an initial real-world registry of 311 clinically diagnosed patients. Clinical features, autoantibodies and therapeutic regimens were summarized and compared between patients with severe vs nonsevere disease.Results
The cohort was 93.1% female (median onset age 40.6 years). Common findings, specifically Raynaud's phenomenon and/or swelling of the fingers or dorsum of the hands, were present in 100%. Phenotypically, an overlap of systemic lupus erythematosus (SLE)-like and systemic sclerosis (SSc)-like features was most frequent (56.0%), while 32.0% had manifestations across all three phenotypic domains (SLE-, SSc- and IIM-like). Major organ involvement occurred in 32.9% of patients, including pulmonary arterial hypertension in 12.8%. Approximately 28.7% of evaluable patients were classified as severe. Off-scale-high anti-U1-RNP antibody status was not associated with severity classification (P = 0.492) or with broad phenotypic categories. Glucocorticoids and immunosuppressive agents were used in 66.7% and 56.5% of the patients, respectively.Conclusions
Mixed connective tissue disease exhibits marked clinical heterogeneity. Severity classification was not associated with off-scale-high anti-U1-RNP antibody status or broad phenotypic categories. These findings support rigorous cardiopulmonary screening and management tailored to the dominant clinical phenotype.
Related
- Early-onset colorectal cancer in Korea: clinical characteristics, treatment patterns, and survival outcomes in a K-CURE nationwide population-based study
- Age-related clinical characteristics of respiratory syncytial virus infection in hospitalized children: a retrospective study
- Clinical characteristics and prognosis of T1N0M1 lung cancer: a population-based retrospective study
- Clinical characteristics, pathogen detection, and severity markers among children with acute respiratory infections during the COVID-19 restriction period: a retrospective hospital-based study
- Clinical and Microbiological Characteristics of Septic Arthritis in 25 Adults at a Tertiary Hospital in Cambodia: A Single-Center Retrospective Case Series
BibTeX
@article{kubo2026clinical,
title = {{Clinical characteristics and severity classification in mixed connective tissue disease: a nationwide retrospective study.}},
author = {Satoshi Kubo and Yurie Kanda and Hideto Kameda and Masataka Kuwana and Hidehiko Narazaki and Takao Fujii and Keishi Fujio and Yoshinao Muro and Konomi Akamatsu and Koichiro Ohmura and Takehisa Ogura and Yuichiro Shirai and Yujiro Tanabe and Ran Nakashima and Yumi Tsuchida and Shingo Nakayamada and Hisanori Hasegawa and Shintaro Hirata and Shusaku Fukaya and Takashi Kato and Hidekata Yasuoka and Yuta Yamashita and Michihito Kono and Tatsuya Atsumi and Yoshiya Tanaka},
journal = {Rheumatology (Oxford, England)},
year = {2026},
month = oct,
doi = {10.1093/rheumatology/keag577},
url = {https://europepmc.org/article/MED/42879733},
note = {CC BY},
}
RIS
TY - JOUR
TI - Clinical characteristics and severity classification in mixed connective tissue disease: a nationwide retrospective study.
AU - Satoshi Kubo
AU - Yurie Kanda
AU - Hideto Kameda
AU - Masataka Kuwana
AU - Hidehiko Narazaki
AU - Takao Fujii
AU - Keishi Fujio
AU - Yoshinao Muro
AU - Konomi Akamatsu
AU - Koichiro Ohmura
AU - Takehisa Ogura
AU - Yuichiro Shirai
AU - Yujiro Tanabe
AU - Ran Nakashima
AU - Yumi Tsuchida
AU - Shingo Nakayamada
AU - Hisanori Hasegawa
AU - Shintaro Hirata
AU - Shusaku Fukaya
AU - Takashi Kato
AU - Hidekata Yasuoka
AU - Yuta Yamashita
AU - Michihito Kono
AU - Tatsuya Atsumi
AU - Yoshiya Tanaka
PY - 2026
DA - 2026/10/01
JO - Rheumatology (Oxford, England)
DO - 10.1093/rheumatology/keag577
UR - https://europepmc.org/article/MED/42879733
AB - Objectives To characterize clinical manifestations, major organ involvement, real-world treatment patterns and factors associated with severity classification in Japanese patients with mixed connective tissue disease (MCTD), aiming to clarify its heterogeneous clinical spectrum.Methods This nationwide retrospective multicentre study analyzed clinical data from 249 patients who strictly fulfilled the 2019 Japanese Ministry of Health, Labour and Welfare diagnostic criteria for MCTD, derived from an initial real-world registry of 311 clinically diagnosed patients. Clinical features, autoantibodies and therapeutic regimens were summarized and compared between patients with severe vs nonsevere disease.Results The cohort was 93.1% female (median onset age 40.6 years). Common findings, specifically Raynaud's phenomenon and/or swelling of the fingers or dorsum of the hands, were present in 100%. Phenotypically, an overlap of systemic lupus erythematosus (SLE)-like and systemic sclerosis (SSc)-like features was most frequent (56.0%), while 32.0% had manifestations across all three phenotypic domains (SLE-, SSc- and IIM-like). Major organ involvement occurred in 32.9% of patients, including pulmonary arterial hypertension in 12.8%. Approximately 28.7% of evaluable patients were classified as severe. Off-scale-high anti-U1-RNP antibody status was not associated with severity classification (P = 0.492) or with broad phenotypic categories. Glucocorticoids and immunosuppressive agents were used in 66.7% and 56.5% of the patients, respectively.Conclusions Mixed connective tissue disease exhibits marked clinical heterogeneity. Severity classification was not associated with off-scale-high anti-U1-RNP antibody status or broad phenotypic categories. These findings support rigorous cardiopulmonary screening and management tailored to the dominant clinical phenotype.
SN - 1462-0324
SN - 1462-0332
ER -