St Joseph's Healthcare, Hamilton, Canada and McMaster University, Hamilton, Canada.
St Joseph's Healthcare, Hamilton, Canada.
Clin Med (Lond). 2020 Nov;20(6):e264-e266. doi: 10.7861/clinmed.2020-0661.
Breathlessness is a subjective symptom that may stem from a number of pathological and functional aetiologies. Consequently, clinicians are often faced with the challenge of navigating between the tensions of Occam's razor (parsimonious aetiology) or Hickam's dictum (multiple diagnoses). We report a case of a 36-year-old woman with a lifelong history of episodic breathlessness caused at various times by dysfunctions of lung parenchyma (emphysema) and airway smooth muscle (asthma), skeletal muscle (filamin-C fibrillary myopathy) and cardiac muscle (cardiomyopathy). We illustrate the utility of the modern diagnostic toolbox in the assessment, understanding and management of complex dyspnoea (including the use of inflammometry, inhaled-gas magnetic resonance imaging-guided bronchial thermoplasty, and genetic testing), and also demonstrate the importance of interdisciplinary data interpretation in establishing accurate aetiologic diagnoses.
呼吸困难是一种主观症状，可能源于多种病理和功能病因。因此，临床医生经常面临着在奥卡姆剃刀原理（简约病因）和希卡姆定律（多种诊断）之间进行权衡的挑战。我们报告了一例 36 岁女性的病例，她一生中有间歇性呼吸困难的病史，其病因在不同时期分别为肺实质（肺气肿）和气道平滑肌（哮喘）、骨骼肌（细丝蛋白 C 纤维肌病）和心肌（心肌病）功能障碍所致。我们展示了现代诊断工具在评估、理解和管理复杂呼吸困难中的实用性（包括使用炎症测定法、吸入性气体磁共振成像引导的支气管热成形术和基因检测），并还证明了跨学科数据解释在确定准确病因诊断方面的重要性。
