Hereditary angioedema

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Summary of Hereditary angioedema

Hereditary angioedema is a rare, autosomal dominantly inherited blood disorder that causes episodic attacks of swelling that may affect the face, extremities, genitals, gastrointestinal tract and upper airways. Episodes may be triggered by trauma, surgery, dental work, menstruation, some medications, viral illness and stress; however, this is not always readily determined. Hereditary angioedema may also be caused by C1 esterase inhibitor deficiency. This leads to unregulated activation of kallikrein and increased bradykinin.

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Hereditary angioedema

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Hereditary angioedema

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USMLE® Step 1 style questions USMLE

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A 17-year-old girl with a 3-year history of recurrent facial, hand and foot swelling comes to an allergy and immune specialist for evaluation. She also has experienced concurrent throat tightness and GI upset. These relapsing episodes of swelling are not accompanied by pruritus or skin rash. The patient has recognized no environmental triggers. She takes no prescription or over the counter medications. Allergy testing reveals no identifiable allergens. Complement testing reveals low levels of C1-INH. Which of the following is most likely to be true of this patient’s condition?

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