Successful management of hereditary angioedema during pregnancy in a patient with heterozygous MTHFR mutation

Hereditary angioedema (HAE) caused by C1-esterase inhibitor (C1-INH) deficiency is a rare, autosomal dominant disorder. Type 1 HAE makes up 85% of cases and is caused by reduced circulating levels of C1-INH, whereas type 2 HAE is caused by dysfunctional circulating C1-INH despite normal levels.1 Symptoms of type 1 and 2 HAE may include abdominal symptoms and episodes of swelling of the face, genitalia, extremities, urinary tract, and upper airways. Angioedema of the upper airways is life-threatening and can lead to death by asphyxiation.

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