RT Journal Article
SR Electronic
T1 Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?
JF Clinical Medicine
JO Clin Med
FD Royal College of Physicians
SP e264
OP e266
DO 10.7861/clinmed.2020-0661
VO 20
IS 6
A1 Carmen Venegas
A1 Sarah Svenningsen
A1 Melanie Kjarsgaard
A1 Mark Tarnopolsky
A1 Kim Anderson
A1 Sebastian Levesque
A1 Benjamin A Raby
A1 Grace Parraga
A1 Gerard Cox
A1 Parameswaran Nair
YR 2020
UL http://www.rcpjournals.org/content/20/6/e264.abstract
AB 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.