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

N.T.M.L Fragnan,R.N Constantino-Silva,S.M.U Palma,G.B Borba,A.C Oliveira,A.S Grumach,A.L.N Tolentino,J.A Simões

doi:10.1590/1414-431x20187813

N.T.M.L Fragnan, R.N Constantino-Silva + Show 6 more

Open Access

https://doi.org/10.1590/1414-431x20187813

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Abstract

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.

Highlights

Hereditary angioedema (HAE) is a rare disease with an autosomal dominant inheritance and an estimated prevalence of 1:50,000 [1]
HAE results from deficit in the concentration and/or activity of the C1 esterase inhibitor (C1-INH), a protein belonging to the serpin family [2]
Considering that many patients with HAE go undiagnosed and that there is only one published Brazilian survey [5] on HAE – in which 210 patients were evaluated – this study aimed to describe the experience of a referral center in the follow-up of patients with HAE and discuss their clinical and laboratory characteristics in order to create awareness toward diagnosis

Summary

Introduction

Hereditary angioedema (HAE) is a rare disease with an autosomal dominant inheritance and an estimated prevalence of 1:50,000 [1]. HAE results from deficit in the concentration and/or activity of the C1 esterase inhibitor (C1-INH), a protein belonging to the serpin family [2]. This deficiency results in loss of the inhibitory function of the complement, fibrinolytic, coagulation, and contact systems [3]. The contact system contributes most to the symptomatology of the disease, and the lack of control of this system generates excess bradykinin, a protein responsible for extravasation of plasma and edema, as well as the contraction of smooth muscles, resulting in pain intensification [2,3]. A mortality of 25 to 40% is estimated, mainly due to laryngeal edema and asphyxia [7]

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