Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review* / Angioedema hereditario tipo III (estrogeno-dependente): relato de tres casos e revisao da literatura

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.

Neste artigo são relatados três casos de angioedema hereditário do tipo III (estrógeno-dependente ou com inibidor de C1 normal), que foi inicialmente descrito em mulheres da mesma família, em associação com condições de alto nível estrogênico, como uso de anticoncepcionais orais e gravidez. Não há alteração do inibidor de C1, como acontece nos outros tipos de angioedema hereditário, e são observadas mutações no gene codificador do fator XII da coagulação em várias pacientes. O diagnóstico atualmente é eminentemente clínico e o tratamento consiste na suspensão dos fatores desencadeantes e controle dos sintomas agudos. Também é apresentada breve revisão da fisiopatogenia, quadro clínico, alterações genéticas e tratamento.

The Relationship between Brachial Ankle Pulse Wave Velocity and Complement 1 Inhibitor

Complement 1 (C1) inhibitor is an acute phase protein with anti-inflammatory properties. The aim of the present study was to elucidate the relationship between brachial ankle pulse wave velocity (baPWV), the parameter of arterial stiffness, and C1 inhibitor. One hundred subjects were randomly enrolled in this study. Data about baPWV, age, gender, hypertension, smoking, and body mass index (BMI) were measured. Blood tests for total cholesterol, low density lipoprotein, high density lipoprotein, triglycerides, hemoglobin A1c, erythrocyte sedimentation rate, C-reactive protein, complement 3, and C1 inhibitor were performed. Based on the Pearson correlation, the C1 inhibitor showed a positive relation to the baPWV (P<0.001). Multiple regression analysis revealed the significant predictors of baPWV were not only the conventional risk factors of arteriosclerosis and/or atherosclerosis, such as age (P<0.001), gender (P<0.001), hypertension (P<0.001), and BMI (P=0.006), but also the acute phase protein, C1 inhibitor (P=0.025). In conclusion, C1 inhibitor is associated with arterial stiffness through its association with increased inflammation.