INTRODUCTION: Hereditary Angioedema (HA), is an autosomal dominant disease caused by the deficiency or malfunction of the plasmatic protein: C1 esterase inhibitor. It manifests with recurrent unpredictable episodes of non-pruritic angioedema, which can affect any part of the body. Without specific therapy, patients may present severe crises with a risk to life.
CLINICAL CASE: Male patient, 14 years old (yo). without relevant family history. He started at 6 yo. with sporadic episodes of lip and facial edema, which solves spontaneously. At 7 yo he added recurrent crisis of abdominal pain. Multiple studies ruled out, different bowel disease. At 12 yo he persisted with multiple crisis, adding hand and ankle edema, with non-pruritic skin rash and scrotal edema that compromised his daily activities. Due to his clinical manifestation, at 13 yo he was referred for the first time to immunologist: lab test revealed low levels of C4 and C1 Inhibitor with abnormal functional activity of c1 Inhibitor. Taking into account his clinical history and laboratory results, type 1 HA was assumed. He began treatment with a competitive antagonist of bradykinin b2 receptor with a very good response. But he continued with several crisis, requiring 4 to 6 treatments monthly for treat them. Ten months ago, he started long-term prophylaxis, with a monoclonal antibody that binds plasmatic kallikrein, inhibiting its proteolytic activity. Since then he has not suffered new HA crisis
DISCUSSION: Report the clinical case of a patient diagnosed with HA after 7 years of his first crisis. An early and accurate diagnosis of HA must be established to access appropriate health care quickly. Treatment will depend on clinical symptoms, characteristics of episodes, and personal situation of the patient situation (crisis, short- and long-term prophylaxis).