Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases)

• Main Authors: N.T.M.L. Fragnan, A.L.N. Tolentino, G.B. Borba, A.C. Oliveira, J.A. Simões, S.M.U. Palma, R.N. Constantino-Silva, A.S. Grumach
• Format: Article
• Language: English
• Published: Associação Brasileira de Divulgação Científica 2018-11-01
• Series: Brazilian Journal of Medical and Biological Research
• Subjects: Hereditary angioedema; C1 esterase inhibitor; Diagnosis; Treatment; Complement
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018001200607&lng=en&tlng=en

Hereditary angioedema (HAE) is a rare autosomal dominant disease due to C1 esterase inhibitor deficiency (C1-INH). The disease is characterized by subcutaneous and submucosal edema in the absence of urticaria due to the accumulation of bradykinin. This descriptive study aimed to evaluate the clinical characteristics of patients with a confirmed diagnosis of HAE referred to our Outpatient Clinic between December 2009 and November 2017. Fifty-one patients (38 F, 13 M) with a mean age of 32 years (range: 7–70 y) were included. Family history of HAE was reported in 70% (36/51) of the cases; 33/46 patients became symptomatic by 18 years of age. The median time between onset of symptoms and diagnosis was 13 years (3 mo–50 y). The most frequent triggering factors for attacks were stress (74.4%), trauma (56.4%), and hormonal variations (56%). The main symptoms were subcutaneous edema in 93.5% (43/46) of patients, gastrointestinal symptoms in 84.8% (39/46), and obstruction in the upper airways in 34.8% (16/46). Hospitalization occurred in 65.2%, of whom 13.3% had to be transferred to the Intensive Care Unit. Prophylactic treatment was instituted in 87% (40/46) of patients, and 56.5% (26/46) required additional treatment to control attacks. Owing to our data collection over a period of 8 years, a significant number of patients were identified by this HAE reference center. Despite early recognition and prophylactic treatment, a high percentage of patients were hospitalized. HAE is still diagnosed late, reinforcing the need for more reference centers specialized in diagnosis and educational projects for health professionals.