Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?
Asthma
breathlessness
cardiomyopathy
inhaled-gas MRI
myofibrillar myopathy
Journal
Clinical medicine (London, England)
ISSN: 1473-4893
Titre abrégé: Clin Med (Lond)
Pays: England
ID NLM: 101092853
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
entrez:
17
11
2020
pubmed:
18
11
2020
medline:
13
5
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33199334
pii: 20/6/e264
doi: 10.7861/clinmed.2020-0661
pmc: PMC7687324
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e264-e266Subventions
Organisme : CIHR
Pays : Canada
Informations de copyright
© Royal College of Physicians 2020. All rights reserved.
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