Radić Mislav, Overbury Rebecca S
Department of Rheumatology and Clınıcal Immunollogy, University of Split, Split, Croatia.
Department of Internal Medicine, Division of Rheumatology, University of Utah, 30 N 1900 E, Ste 4B200, UT, 84132, Salt Lake City, USA.
BMC Rheumatol. 2021 Mar 19;5(1):9. doi: 10.1186/s41927-021-00179-2.
The concept of mixed connective tissue disease (MCTD) as a unique connective tissue disease has endured for half a century. Disease onset can be in adulthood (MCTD) or of juvenile onset (jMCTD) and is characterized by overlapping features of systemic lupus erythematosus (SLE), polymyositis or dermatomyositis (PM/DM) and systemic sclerosis (SSc). No universally accepted classification criteria for MCTD exists, however agreed upon overlapping disease features include the presence of high titers of U1 small nuclear ribonucleoprotein particle antibodies (U1snRNP) in the peripheral blood, Raynaud's phenomenon, synovitis, myositis and swollen hands or fingers. Characteristic capillaroscopy findings are commonly seen in MCTD and jMCTD, which may represent a crucial and key clue for classification as well as prognosis in these patients.
We present a young male patient, with symptom onset as early as age 13, who was diagnosed with MCTD at age 16 and found to have high titers of anti-U1snRNP antibodies, Raynaud's phenomenon, synovitis, and swollen hands and fingers. Most interestingly, his video capillaroscopy at diagnosis was abnormal and revealed an active SSc-like pattern. His presentation and course are described.
We conclude that based on existing data, and as highlighted by this case presentation, nailfold video capillaroscopy should be included as an early screening tool for the detection of microangiopathy in patients with the diagnosis MCTD and jMCTD. Additionally, given its prevalence in this population at disease diagnosis, we recommend consideration be given to nailfold video capillaroscopy as a potentially important classification criteria and prognostic tool for jMCTD and MCTD.
混合性结缔组织病（MCTD）作为一种独特的结缔组织病概念已存在半个世纪。疾病可在成年期发病（MCTD）或青少年期发病（jMCTD），其特征为具有系统性红斑狼疮（SLE）、多发性肌炎或皮肌炎（PM/DM）以及系统性硬化症（SSc）的重叠特征。目前尚无普遍接受的MCTD分类标准，但公认的重叠疾病特征包括外周血中存在高滴度的U1小核糖核蛋白颗粒抗体（U1snRNP）、雷诺现象、滑膜炎、肌炎以及手部或手指肿胀。特征性的甲襞毛细血管镜检查结果在MCTD和jMCTD中常见，这可能是这些患者分类以及预后的关键线索。
我们报告一名年轻男性患者，早在13岁时出现症状，16岁时被诊断为MCTD，发现有高滴度的抗U1snRNP抗体、雷诺现象、滑膜炎以及手部和手指肿胀。最有趣的是，其诊断时的视频甲襞毛细血管镜检查异常，显示出类似活动性SSc的模式。描述了他的临床表现和病程。
我们得出结论，基于现有数据，并如本病例报告所强调的，甲襞视频毛细血管镜检查应作为MCTD和jMCTD患者微血管病变检测的早期筛查工具。此外，鉴于其在该疾病诊断人群中的普遍性，我们建议将甲襞视频毛细血管镜检查考虑作为jMCTD和MCTD潜在的重要分类标准和预后工具。
