心悸,气促,四肢无力,水肿,喘憋:抗线粒体抗体阳性、合并心脏受累的罕见炎性肌病

Palpitations, Shortness of Breath, Weakness in Limbs, Edema, and Dyspnea: A Rare Inflammatory Myopathy with Positive Aniti-mitochondrial Antibodies and Cardiac Involvement

  • 摘要: 本文报道1例因“心悸、气促2年余,四肢无力6个月,水肿、夜间喘憋2个月”就诊于北京协和医院老年医学科的患者。其临床表现为四肢肌力下降,吞咽肌、呼吸肌受累;同时合并心力衰竭和以房性心律失常为主的多种心律失常;实验室检测可见包括抗线粒体抗体在内的多种自身抗体阳性。经多学科协作诊疗,最终诊断为抗线粒体抗体相关炎性肌病。予以糖皮质激素联合免疫抑制剂治疗,并进行针对肌肉力量的抗阻练习和针对肺功能的康复训练后,患者临床症状显著改善。在该患者的诊疗过程中,紧密围绕患者临床表现逐步厘清病因,发现细微异常临床资料背后的可能原因,并实施有效干预,再次体现了多学科协作在老年罕见病诊疗中的重要作用。

     

    Abstract: This article presents a case study of a patient who visited the Geriatric Department of Peking Union Medical College Hospital due to "palpitations, shortness of breath for more than 2 years, limb weakness for 6 months, edema, and nocturnal dyspnea for 2 months". The patient exhibited decreased muscle strength in the limbs and involvement of swallowing and respiratory muscles, alongside complications of heart failure and various arrhythmias which were predominantly atrial. Laboratory tests revealed the presence of multiple autoantibodies and notably anti-mitochondrial antibodies. Following a comprehensive multidisciplinary evaluation, the patient was diagnosed with anti-mitochondrial antibody-associated inflammatory myopathy. Treatment involved a combination of glucocorticoids and immunosuppressants, along with resistance exercises for muscle strength and rehabilitation training for lung function, resulting in significant improvement of clinical symptoms. The case underscores the importance of collaborative multidisciplinary approaches in diagnosing and treating rare diseases in elderly patients, where careful consideration of clinical manifestations and subtle abnormal clinical data can lead to effective interventions.

     

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