Clinical, Serological, and Genetic Characteristics of a Hungarian Myositis-Scleroderma Overlap Cohort

Abstract

Overlap myositis is a distinct subgroup of idiopathic inflammatory myositis (IIM) with various clinical phenotypes. The aim of this study was to determine the clinical, serological, and genetic features of systemic sclerosis (SSc)-IIM overlap patients. It was a retrospective study using clinical database of 39 patients, fulfilling both the criteria of SSc and IIM. 56.4% of the patients had limited cutaneous, 43.6% had diffuse cutaneous SSc, whereas 7.7% of the patients had dermatomyositis and 92.3% polymyositis. The two diseases occurred simultaneously in 58.97%, while 10.26% in myositis and 30.77% in scleroderma were initially diagnosed. The frequencies of organ involvement were interstitial lung disease 71.8%, dysphagia 66.7%, cardiac involvement 41%, pulmonary arterial hypertension (PAH) 30.8%, and renal involvement 12.8%, respectively. The presence of human leukocyte antigen HLA − DRB 1 ∗ 03 and DQA 1 ∗ 051 ∗ 01 alleles were significantly higher in the overlap patients than in healthy controls (82.35% vs. 27.54%; p < 0.0001 and 88.24% vs. 30.16; p < 0.0001 ). Certain clinical parameters, such as fever at diagnosis (41.67% vs. 7.41%, p = 0.0046 ), cardiac involvement (83.33% vs. 22.22%, p = 0.0008 ), subcutaneous calcinosis (41.66 vs. 11.11, p = 0.01146 ), and claw hand deformity (25% vs. 11.11%, p = 0.00016 ) were significantly associated with the presence of PAH. Upon comparison, the overlap patients and anti-Jo-1 positive antisynthetase patients showed similarities in terms of genetic results and major clinical features; however, SSc-IIM overlap patients could be distinguished with higher erythrocyte sedimentation rate (ESR) level, more frequent presence of Raynaud’s phenomenon ( p < 0.0001 ; OR: 20.00), dysphagia ( p < 0.0001 ; OR: 15.63), and infrequent livedo reticularis ( p < 0.01 ; OR: 0.11). SSc-IIM overlap myositis is a unique group within IIM-s possessing characteristic clinical features.

The Involvement of Smooth Muscle, Striated Muscle, and the Myocardium in Scleroderma: A Review

“…Regarding histopathology features, perifascicular atrophy, necrosis, inflammation, and neurogenic changes were described in the SSc-overlap group [ 119 ]. Furthermore, in a Hungarian cohort, the genetic features HLA-DRB1 and DQA1 and dysphagia were more common in overlap patients, while some characteristics present at the onset of SSc, such as fever, subcutaneous calcinosis, heart involvement, and claw hand deformity, were correlated with pulmonary arterial hypertension in this group [ 120 , 121 ]. A group of authors also described a seronegative form of scleromyositis, with the absence of SSc-specific or SSc-overlap antibodies, and explored the non-ACR/EULAR features that led to a positive diagnosis of scleromyositis.…”