• Clin Med (Lond) · Nov 2020

    Case Reports

    Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?

    • Carmen Venegas, Sarah Svenningsen, Melanie Kjarsgaard, Mark Tarnopolsky, Kim Anderson, Sebastian Levesque, Benjamin A Raby, Grace Parraga, Gerard Cox, and Parameswaran Nair.
    • St Joseph's Healthcare, Hamilton, Canada and McMaster University, Hamilton, Canada.
    • Clin Med (Lond). 2020 Nov 1; 20 (6): e264e266e264-e266.

    AbstractBreathlessness 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.© Royal College of Physicians 2020. All rights reserved.

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