Angioedema in C1 esterase inhibitor deficiency – A Review

• Autor(a) principal: Murinello, António
• Data de Publicação: 2006
• Outros Autores: Braz, Sandra, Arranhado, Emília
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://revista.spmi.pt/index.php/rpmi/article/view/1650
• topic: Angioedema adquirido; Angioedema hereditário; Deficiência do inibidor da esterase do C1; Cinarizina; Álcool; Alcohol; Acquired/Hereditary Angioedema; C1INH Esterase Deficiency; Cinnarizine

Angioedema, a rare potentially severe disease, is characterized by recurrent, circumscribed, solitary or multiple subcutaneous and mucosal swelling, involving the extremities, face, larynx and bowel wall. Bradykinin appears to be the main mediator of episodes. Angioedema is due to hereditary or acquired varieties of C1 esterase inhibitor (C1INH) deficiency, each one comprising two types. In type 1 hereditary angioedema both C1INH protein level and function in plasma are decreased; whereas in type 2 hereditary angioedema the C1INH level is normal or elevated, but C1INH function is decreased due to synthesis of dysfunctional C1INH. In type 1 acquired angioedema there is depressed functional C1INH activity, which is frequently associated with lymphoproliferative disorders, whereas in type 2 acquired angioedema there is the presence of anti-C1INH autoantibodies, often monoclonal, but without proven associated malignant disease. The attacks are caused by several conditions. Based on a case of atypical acquired angioedema in a 49-year old man, responding favourably to cinnarizine and alcohol abstinence, the authors provide a concise review of both types of angioedema, portending to pathogenic mechanisms, aetiology of attacks, clinical manifestations, differential diagnosis of both types of angioedema by quantifi cation of the C1 complement fraction determination, and the available therapeutic possibilities. Cinnarizine was prescribed due to presumed alcoholic liver disease. The clinically signifi cant improvement, was however not associated with concomitant good laboratory results, which is a relatively common occurrence.