Rheumatoid arthritis associated with Rendu — Osler — Weber disease: Second description

Abstract

The article presents second ever published description of rheumatoid arthritis case co-morbid with Rendu — Osler — Weber disease (hereditary hemorrhagic teleangiectasia) in a 63-yearsold female patient. The aim is describing the first case report of a patient who after a confirmed hereditary hemorrhagic teleangiectasia diagnosis developed rheumatoid arthritis one year later. Historical data and brief pathophysiological characteristic of both diseases and their possible intermingle are included: (i) mutant genes in hereditary hemorrhagic teleangiectasia all encode proteins involved in the TGF-beta signaling pathway, and increased plasma levels of TGF-beta-1 and vascular endothelial growth factor have been seen in such patients; (ii) TGF-beta plays a role in the development of synovial cell proliferation, inflammation, and angiogenesis in rheumatoid arthritis; (iii) TGF-β regulates thymic T-cell selection, inhibits cytotoxic T lymphocyte (CTL), Th1-, and Th2-cell differentiation while promoting peripheral Treg-, Th17-, Th9-, and Tfh-cell generation, and T-cell tissue residence in response to immune challenges, all essential for pathogenesis of rheumatoid arthriitis. The defect in its reception as well as its compensatory increased blood content theoretically can alter autoimmunity thus facilitating in Rendu — Osler — Weber disease patients the development of systemic autoimmune diseases.