Department of Rheumatology, St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK.
Department of Rheumatology, Frimley Healthcare NHS Foundation Trust, Frimley, UK.
Rheumatol Int. 2022 Feb;42(2):359-364. doi: 10.1007/s00296-021-05075-z. Epub 2022 Jan 10.
Autoantibodies to the 75-kDa and 100-kDa subunits of the PM/Scl nucleolar protein complex are associated with an overlap syndrome, manifesting with clinical features of systemic sclerosis and idiopathic inflammatory myopathy. We describe the diverse clinical features in a series of 4 cases with anti-PM/Scl-75 and/or anti-PM/Scl-100 antibodies, including severe proximal muscle weakness, oesophageal dysfunction, respiratory weakness requiring mechanical ventilation, Raynaud's, calcinosis cutis, sclerodactyly and critical digital ischaemia. Despite the severity of striated and oesophageal muscle weakness, all patients responded very well to immune suppression, and calcinosis cutis in one case regressed substantially. We highlight the efficacy of Rituximab and intravenous immunoglobulin therapy (IVIg) in these cases, enabling return to normal muscle function within six months. Rituximab was preferentially chosen for cases with hyper-gammaglobulinemia and multiple autoantibodies in addition to anti-PM/Scl, and IVIg was utilised for cases where a rapid onset of effect was required, such as severe ventilator-dependent respiratory muscle weakness and oesophageal dysfunction.
抗 PM/Scl 核仁蛋白复合物 75kDa 和 100kDa 亚单位自身抗体与重叠综合征相关，表现为系统性硬化症和特发性炎性肌病的临床特征。我们描述了一系列 4 例抗 PM/Scl-75 和/或抗 PM/Scl-100 抗体患者的不同临床表现，包括严重的近端肌肉无力、食管功能障碍、需要机械通气的呼吸无力、雷诺现象、皮肤钙质沉着、硬皮病和严重的手指缺血。尽管横纹肌和食管肌无力严重，但所有患者对免疫抑制治疗反应良好，一例皮肤钙质沉着症明显消退。我们强调了利妥昔单抗和静脉注射免疫球蛋白治疗（IVIg）在这些病例中的疗效，使患者在六个月内恢复正常肌肉功能。利妥昔单抗优先用于伴有高丙种球蛋白血症和除抗 PM/Scl 以外的多种自身抗体的病例，而 IVIg 则用于需要快速起效的病例，如严重依赖呼吸机的呼吸肌无力和食管功能障碍。
