Clinical and Epidemiological Features of Juvenile-Onset Systemic Sclerosis From a Nationwide Survey in Japan

Objective To evaluate clinical and epidemiological features of juvenile-onset systemic sclerosis (jSSc) in Japan and to identify racial and generational differences.

Methods We surveyed patients with jSSc (developed < 18 years of age) who visited selected facilities in Japan between January 2016 and December 2020. We estimated the number of patients with jSSc and the annual incidence rate in Japan. Thereafter, differences in clinical characteristics by disease subtype, autoantibody, and age at investigation were analyzed and compared with previous cohorts.

Results Of the 3005 institutions selected for the first survey, 1845 (61.4%) responded. The estimated number of patients with jSSc was 299, whereas the estimated annual incidence rate ranged from 0.98 to 1.59 per 1 million children (aged < 18 years) from 2016 to 2020. In the second-stage survey, 130 cases were analyzed, of which 85 (65.4%) had diffuse cutaneous SSc (dcSSc), 77.7% were female, and the median ages at onset and during the survey were 11 and 21 years, respectively. Autoantibody positivity was 62.4% for antitopoisomerase I antibody (ATA) and 12.9% for anticentromere antibody, whereas anti-PM/Scl antibody was very rare. In total, interstitial lung disease was present in 40.8% of patients (predominantly dcSSc and ATA positive), gastrointestinal lesions in 36.9%, pulmonary arterial hypertension in 7.7%, and no renal crisis.

Conclusion This is the largest national survey of jSSc characteristics analyzed in detail by autoantibody and disease subtype. Japanese jSSc was characterized by a very high ATA positivity rate. However, the frequency of major organ involvement was similar to previous reports of jSSc in the West.