Hereditary Angioedema: A Case Report and Literature Review

Hereditary angioedema (HAE), also known as Quicke”s disease, is an uncommon genetic disease. This is an autosomal dominant condition with a typical presentation of diffuse painless and non-pitting swelling of soft tissue. The disease manifests primarily in the face, airway, extremities, genitalia, abdominal viscera and trunk but swelling can affect any single part of the body or multiple sites. Because many symptoms of HAE overlap with those of other medical conditions, diagnosis may be delayed. It is characterised by either absence or functional deficiency of the C1 esterase inhibitor in plasma. Since it is not a allergic phenomenon, the patients often do not respond to hydrocortisone and adrenaline and this should arouse suspicion. Proper diagnosis and treatment are essential as this condition has the capacity of becoming life threatening due to potential airway embarrassment. Among untreated patients, death from asphyxiation during laryngeal attacks may be as many as 30% of cases. (Many HAE attacks are precipitated by trauma or stress. Symptoms typically worsen over 24 to 36 hours and resolve within 48 hours.) The diagnosis of HAE should be included when assessing patients who display the proper symptomology and family history of the similar condition. In conclusion, diagnosis and management of HAE is required to prevent a potentially fatal outcome.