Hereditary angioedema with normal C1-inhibitor levels: a rare case report

Autores

  • Filipa Rodrigues dos Santos Serviço de Imunoalergologia, Centro Hospitalar Universitário de Santo António. Porto, Portugal. https://orcid.org/0000-0003-2323-4734
  • Inês Falcão Serviço de Imunoalergologia, Centro Hospitalar Universitário de Santo António. Porto, Portugal. https://orcid.org/0000-0002-4783-2539
  • Leonor Cunha Serviço de Imunoalergologia, Centro Hospitalar Universitário de Santo António. Porto, Portugal.

DOI:

https://doi.org/10.32385/rpmgf.v40i2.13745

Palavras-chave:

Hereditary angioedema, Normal C1-inhibitor, FXII gene

Resumo

Hereditary angioedema (HAE) is a rare, hereditary disease and its manifestations may be life-threatening. It differs from histaminergic angioedema since it shows different underlying mechanisms and, therefore, does not respond to antihistamine or adrenaline treatment. The authors present a case of hereditary angioedema to highlight the importance of prompt referral to the allergy and clinical immunology for further evaluation and correct diagnosis in case of suspicion of this entity. 

Downloads

Os dados de download ainda não estão disponíveis.

Referências

Zuberbier T, Asero R, Bindslev-Jensen C, Canonica GW, Church MK, Giménez-Arnau AM, et al. EAACI/GA2LEN/EDF/WAO guideline: management of urticaria. Allergy. 2009;64(10):1427-43.

Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000;356(9225):213-7.

Binkley KE, Davis 3rd A. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol. 2000;106(3):546-50.

Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006;343(4):1286-9.

Banday AZ, Kaur A, Jindal AK, Rawat A, Singh S. An update on the genetics and pathogenesis of hereditary angioedema. Genes Dis. 2019;7(1):75-83.

Serrano C, Guilarte M, Tella R, Dalmau G, Bartra J, Gaig P, et al. Oestrogen-dependent hereditary angio-oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment. Allergy. 2008;63(6):735-41.

Frank MM. 8. Hereditary angioedema. J Allergy Clin Immunol. 2008;121(2 Suppl):S398-401.

Jones D, Zafra H, Anderson J. Managing diagnosis, treatment, and burden of disease in hereditary angioedema patients with normal C1-esterase inhibitor. J Asthma Allergy. 2023;16:447-60.

Downloads

Publicado

30-04-2024

Como Citar

Hereditary angioedema with normal C1-inhibitor levels: a rare case report. (2024). Revista Portuguesa De Medicina Geral E Familiar, 40(2), 170-2. https://doi.org/10.32385/rpmgf.v40i2.13745

Artigos Similares

1-10 de 166

Também poderá iniciar uma pesquisa avançada de similaridade para este artigo.