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.

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CMAJ

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How to be better at diagnosing rare conditions.

CMAJ Podcasts

How to be better at diagnosing rare conditions.