WHEN THE EDEMA IS NOT ALLERGIC – A CLINICAL REPORT

Introduction: Hereditary Angioedema (HAE) is a rare autosomal dominant disease, resulting from disturbances in the complement system, coagulation and kallikrein-bradykinin. It manifests through subcutaneous edema, abdominal pain, and laryngeal edema. Objective: To give visibility to HAE and its diagnosis, preventing fatal events. Case report: Female teenager of 17 years old, with no personal or family history of disease, had several episodes of angioedema limited to the hands when she started oral contraception. Three months later she had an exuberant episode of facial angioedema without dyspnea or hives, requiring hospitalization in pediatric department. The angioedema didn’t respond to antihistamine, oral corticosteroid or adrenaline treatment. Because of the suspicion of HAE she was treated with C1 inhibitor concentrate with positive response in a few hours. She was referred to the Immunoallergology consult. The analysis showed low levels of C1 inhibitor and C4 and normal levels of C1q. She started treatment with tranexamic acid with no recurrence of symptoms. Conclusion: The genetic mutations of HAE determine qualitative or quantitative deficiency of C1 esterase inhibitor. The symptoms are frequently similar to other diseases, such as abdominal pain, facial, extremities or genital edema, fact that may delay the diagnosis. Emotional stress, physical trauma, estrogen or angiotensin converting enzyme inhibitor therapy may precipitate the symptoms. Any family doctor should be alert to the set of symptoms in order to timely diagnose the illness because laryngeal edema can be fatal. It‘s also important to screen the family due to the pattern of inheritance.