The registry of the German Network for Systemic Scleroderma: frequency of disease subsets and patterns of organ involvement

Abstract

Objective. Systemic sclerosis (SSc) is a rare, heterogeneous disease, which affects different organs and therefore requires interdisciplinary diagnostic and therapeutic management. To improve the detection and follow-up of patients presenting with different disease manifestations, an interdisciplinary registry was founded with contributions from different subspecialties involved in the care of patients with SSc.Methods. A questionnaire was developed to collect a core set of clinical data to determine the current disease status. Patients were grouped into five descriptive disease subsets, i.e. lcSSc, dcSSc, SSc sine scleroderma, overlap-syndrome and UCTD with scleroderma features.Results. Of the 1483 patients, 45.5% of patients had lcSSc and 32.7% dcSSc. Overlap syndrome was diagnosed in 10.9% of patients, while 8.8% had an undifferentiated form. SSc sine scleroderma was present in 1.5% of patients. Organ involvement was markedly different between subsets; pulmonary fibrosis for instance was significantly more frequent in dcSSc (56.1%) than in overlap syndrome (30.6%) or lcSSc (20.8%). Pulmonary hypertension was more common in dcSSc (18.5%) compared with lcSSc (14.9%), overlap syndrome (8.2%) and undifferentiated disease (4.1%). Musculoskeletal involvement was typical for overlap syndromes (67.6%). A family history of rheumatic disease was reported in 17.2% of patients and was associated with early disease onset (P < 0.005).Conclusion. In this nationwide register, a descriptive classification of patients with disease manifestations characteristic of SSc in five groups allows to include a broader spectrum of patients with features of SSc.

Systemic sclerosis sine scleroderma

“…9 On the other hand, Hunzelmann et al reported that renal involvement is twice as common in patients with ssSSc than it is in patients with systemic sclerosis. 10 Additionally, renal insufficiency was also more than twice as common in the patients as compared to the total group of systemic sclerosis patients. An analysis of the literature revealed a relatively high rate of case reports describing patients with renal failure due to systemic sclerosis without or with delayed cutaneous manifestations.…”

“…1.5 and 7.5%, respectively. 8,10 Most of the literature is limited to descriptions of isolated cases, usually containing additional rare features, complications or associated conditions. According to Marangoni et al, the total number of 139 cases was reported until 2012.…”

“…8 Similar findings were described in the German and Spanish groups of ssSSc patients. 8,10 Esophageal dysmotility was shown in 73% and 45% of the patients, while interstitial lung disease was found in 73% and 64%, respectively. Gastrointestinal manifestations include swallowing disturbances, crampy abdominal pain, nausea or vomiting.…”

High Prevalence of Acute Exacerbation of Interstitial Lung Disease in Japanese Patients with Systemic Sclerosis

“…ILD, which occurs at a frequency of 34%-60% in patients with SSc (Meyer et al 2007;Hunzelmann et al 2008;Hashimoto et al 2012), is currently the primary cause of SSc-related death (Ioannidis et al 2005;Steen and Medsger 2007). However, no agents have been proven to effectively control ILD .…”

Molecular Mechanisms of Scleroderma and Fibrosis

“…Scleroderma is an autoimmune disease characterized with fibrosis (1-2).Clinically, systemic sclerosis is a heterogeneous disease with different sub-groups characterized by visceral involvement, measured by the presence of different antibodies (3,4). It is a rare disease with a prevalence ranging from 50 to 300 in a million.…”