Abstract
Systemic sclerosis (SSc) is a severe, chronic autoimmune disease of the connective tissue. The disease typically becomes clinically apparent on the skin and subsequently spreads to several internal organs, in particular the gastrointestinal system, lung, heart and kidney (in decreasing frequency). The pathogenesis evolves via activation of the vascular and immune system, finally leading to a fibrotic response of the connective tissue and resulting in progressive dysfunction of the affected organs. Although the etiology still remains elusive, the knowledge of genetic factors associated with SSc has increased remarkably in recent years. It can be shown that SSc shares a number of genetic risk factors with other autoimmune diseases, in particular lupus erythematosus. New pathways such as Wnt signaling have been identified, which improve our understanding of the initiation of fibrosis in this still enigmatic disease. The enhanced insight into distinct steps of the organotypic pathophysiology of SSc, for example in pulmonary arterial hypertension, has led to considerable therapeutic improvement, resulting in enhanced life quality and life expectancy in subgroups of SSc patients in recent years.
Financial & competing interests disclosure
The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.