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Hereditary Angioedema: The Importance of Clinical Suspicion and Proper Treatment

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Detalhes bibliográficos
Resumo:Hereditary angioedema (HAE) is a syndrome characterizedby episodic swelling of subcutaneous and submucosal tissues, due to a deficiency or dysfunctionality in functionalC1 esterase inhibitor (C1-inh). The authors present a caseof a 40 year-old man with a positive family history of HAE,recurrent episodes of abdominal pain, nausea and vomiting.The immunological study revealed low levels of C1-inh andC4 and normal levels of C1q. Acquired angioedema wasexcluded, making the diagnosis of type 1 HAE. The patientpresented several times to the emergency department withsevere abdominal pain, diffuse abdominal tenderness withguarding. However, laboratory and imagiologic studies hadno alterations. A subcutaneous injection of icatibant was administered with resolution of symptoms. HAE is a rare andpotentially fatal disease, mainly during acute attacks. An early diagnosis and a proper treatment are fundamental.
Autores principais:Araújo, Ana
Outros Autores:Pinto, Joel; Almeida, Paulo; Pinheiro, Beatriz; Morete, Ana
Assunto:Angioedema Hereditário Icatibant Proteína Inibidora do Complemento C1 Angioedemas, Hereditary Complement C1 Inhibitor Protein Icatibant
Ano:2018
País:Portugal
Tipo de documento:artigo
Tipo de acesso:unknown
Instituição associada:Sociedade Portuguesa de Medicina Interna
Idioma:português
Origem:Revista Portuguesa de Medicina Interna
Descrição
Resumo:Hereditary angioedema (HAE) is a syndrome characterizedby episodic swelling of subcutaneous and submucosal tissues, due to a deficiency or dysfunctionality in functionalC1 esterase inhibitor (C1-inh). The authors present a caseof a 40 year-old man with a positive family history of HAE,recurrent episodes of abdominal pain, nausea and vomiting.The immunological study revealed low levels of C1-inh andC4 and normal levels of C1q. Acquired angioedema wasexcluded, making the diagnosis of type 1 HAE. The patientpresented several times to the emergency department withsevere abdominal pain, diffuse abdominal tenderness withguarding. However, laboratory and imagiologic studies hadno alterations. A subcutaneous injection of icatibant was administered with resolution of symptoms. HAE is a rare andpotentially fatal disease, mainly during acute attacks. An early diagnosis and a proper treatment are fundamental.