PDF(Pubmed)
Abstract：
Undifferentiated connective tissue disease (UCTD) poses a significant diagnostic challenge due to its wide array of clinical presentations and the absence of specific diagnostic criteria. We present the case of a 22-year-old female who initially exhibited symptoms resembling the common flu, including recurrent fever, headaches, and constitutional symptoms. Despite initial tests showing no abnormalities and negative autoimmune serology, her symptoms persisted, prompting further investigation. Although subsequent imaging studies yielded no definitive diagnosis, her elevated inflammatory markers and progressively positive antinuclear antibody (ANA) test after the initial negative result suggested an underlying autoimmune process. After six months of persistent symptoms, treatment with hydroxychloroquine initiated by a rheumatologist led to a remarkable resolution of her symptoms. This case highlights the challenge of diagnosing UCTD, particularly in young individuals, where symptoms may manifest early in life without clear laboratory abnormalities, sometimes with initial negative ANA, making it a learning point to recheck ANA levels even if they were initially negative. It underscores the importance of considering UCTD in patients with unexplained symptoms and inconclusive laboratory findings, as early initiation of appropriate treatment can significantly alleviate symptoms and improve patient outcomes.
摘要：
未分化结缔组织病（UCTD）由于其广泛的临床表现和缺乏特定的诊断标准而提出了重大的诊断挑战。我们介绍了一名22岁的女性，她最初表现出类似普通流感的症状，包括反复发烧,头痛,和体质症状。尽管最初的测试显示没有异常和自身免疫血清学阴性，她的症状持续存在,促使进一步调查。尽管随后的影像学研究没有得到明确的诊断，最初阴性结果后，她的炎症标志物升高和抗核抗体（ANA）测试逐渐阳性，提示潜在的自身免疫过程。经过六个月的持续症状，由风湿病学家开始的羟氯喹治疗使她的症状得到了显着缓解。这个案例凸显了诊断UCTD的挑战，特别是在年轻人中，症状可能在生命早期出现，没有明显的实验室异常，有时初始ANA为阴性，使其成为一个学习点，重新检查ANA水平，即使他们最初是负的。它强调了在症状不明和实验室检查结果不确定的患者中考虑UCTD的重要性。因为早期开始适当的治疗可以显着缓解症状并改善患者预后。
