How to be better at diagnosing rare conditions.

Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent episodes of painful swelling without urticaria that leads to substantial morbidity and even mortality if left untreated.On this episode, Dr. Victoria Cook, an immunologist working in Victoria, BC, describes the case of a woman who had 6 emergency department presentations, 1 hospital admission and saw 5 different specialists over 11 months before finally being diagnosed with HAE.Drs. Bigham and Omole, then speak with Dr. Ed Etchells about how physicians can work to strip away biases and cognitive obstacles that can prevent timely diagnoses of rare and challenging conditions. Dr. Etchells works in the division of General Internal Medicine at Women's College Hospital in the University of Toronto.Article discussedTranscriptCMAJ Comments or questions? Text us.Join us as we explore medical solutions that address the urgent need to change healthcare. Reach out to us about this or any episode you hear. Or tell us about something you'd like to hear on the leading Canadian medical podcast.You can find Blair and Mojola on X @BlairBigham and @DrmojolaomoleX (in English): @CMAJ X (en français): @JAMC FacebookInstagram: @CMAJ.ca The CMAJ Podcast is produced by PodCraft Productions

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