Hereditary angioedema, coma, neurological emergency, C1 esterase inhibitor
Hereditary angioedema (HAE) is a rare genetic disorder transmitted as an autosomal dominant trait, characterized by reduced plasma concentration or by the presence of non-functional C1 esterase inhibitor. Oedema caused by HAE mostly affects the skin and bowel and can induce swelling of genitalia. Oedema can be life threatening if it causes swelling of the larynx with obstruction of the airways.
We describe the case of a 52-year-old man who presented a neurological emergency (coma), where the remarkable localization of the clinical manifestation and the unusual symptomatology hindered the correct diagnosis.
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Issue: Vol. 1 (2014) (view)