Hereditary Angioedema- A Rare Case Report and Literature Review

Abstract

Hereditary angioedema (HAE) is a rare disorder due to either deficiency or dysfunction of Complement 1 (C1) esterase inhibitor (C1-INH). HAE usually presents with recurrent angioedema (AE) episodes affecting the extremities, face, and gastrointestinal tract, but it is not associated with urticarial rash and itching. Timely identification of this condition is vital because the lack of response to traditional antihistamines and steroids leads to a rise in mortality of up to 30%–40% in undiagnosed cases. Here, we present a case involving a 25-year-old woman, who presented with 1-day complaints of right upper limb swelling, which spread to involve all the limbs and her face within 12 h of symptom onset. She also had a history of abdominal pain, which was sudden in onset, squeezing type, without any associated vomiting and diarrhea. She denied a history of drug or food allergies. Given the presence of AE, we treated her with antihistamines and steroid injections, but she failed to respond. On asking, she gave a history from childhood of repeated episodes and similar complaints in her family members. With history and physical symptoms suggestive of HAE, diagnostic studies showed decreased complement 4 l (C4) and C1 INH levels, confirming the diagnosis of HAE Type 1. The patient was successfully managed with fresh-frozen plasma as first-line treatment options are unavailable in India. Due to a lack of clinical awareness, the disease often remains undiagnosed for several years. Thus, there is a high need to raise clinical awareness and diagnostic facilities to improve case detection and management of HAE.