Abstract
Hereditary angiooedema (HAE) is characterised by recurrence of cutaneous and mucous membrane swellings in any part of the body. Symptoms usually appear early in life and are normally accompanied by a family history because the disease is inherited in an autosomal dominant manner. The spontaneous mutation rate is about 25% and more than 1001 inhibitor gene mutations have been described′different C1 inhibitor gene mutations have been described.
Highlights
Hereditary Angioedema (HAE) is characterised by recurrence of cutaneous and mucous membrane swellings in any part of the body
Symptomatic involvement of the GI tract is an important clinical feature of HAE, since it is more distressing than the edema of the skin, and it occurs far more frequently than the life-threatening laryngeal edema [1,2]
27 year old multiparous woman presented in her third pregnancy for booking in Addenbrookes University hospital
Summary
Hereditary Angioedema (HAE) is characterised by recurrence of cutaneous and mucous membrane swellings in any part of the body. Symptoms usually appear early in life and are normally accompanied by a family history because the disease is inherited in an autosomal dominant manner. Abdominal attacks of HAE are mostly characterized by pain, vomiting, and diarrhoea. They are caused by transient edema of the bowel wall, leading to partial or complete intestinal obstruction, ascites, and hemoconcentration. Symptomatic involvement of the GI tract is an important clinical feature of HAE, since it is more distressing than the edema of the skin, and it occurs far more frequently than the life-threatening laryngeal edema [1,2]
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