medigraphic.com
ISSN 1561-2996 (Electronic)
ISSN 0864-0289 (Print)

2016, Number 1

<< Back

Rev Cubana Hematol Inmunol Hemoter 2016; 32 (1)

Hereditary angioedema, a disease of easily diagnosis confusion

Álvarez PO, Portelles FMM, Martínez RR, Pérez GA

Language: Spanish
References: 15
Page: 150-155
PDF size: 130.40 Kb.


ABSTRACT

Hereditary angioedema is a rare genetic autosomal dominant disease with an appearance from 1:10 000 to 1:50 000, which main symptom is defined episodes of painful deforming edema with absence of pruritus, usually located in extremities. Diagnosis is based on anamnesis, physical examination and determination of C4, C1- INH, where low serum must be found. We present a male patient aged 33, who attends a consultation with disfiguring edema in the face and upper extremities reporting that in his family a grandfather presented a similar symptom as well as his two sons. The tests made reflected: C3: 87 mg / dl, C4: 10 mg / dl and functional activity of C1-INH: 33 %; other hormonal and immunological studies showed values within normal ranges. He was diagnosed as hereditary angioedema type II and received prophylactic treatment with Danazol (200 mg); the patient has now been four months without episodes.


REFERENCES

  1. Machado AF, Thomaz JE, Neto HJC, Riedi CA, Rosário NA. Agiodema Hereditário: Uma Actualização. Revista Médica da UFPR. 2015;2(1):33-8.

  2. Malbrán A, Malbrán E, Menéndez A, Fernández Romero DS. Angioedema hereditario: Tratamiento del ataque agudo en la Argentina. Medicina (Buenos Aires). 2014;74(3):198-200.

  3. Giavina-Bianchi P, França AT, Grumach AS, Motta AA, Fernandes FR, Campos RA, et al. Diretrizes do diagnóstico e tratamento do angioedema hereditário. Rev bras alerg imunopatol. 2010;33(6):242-52.

  4. Osorio HE, Rodríguez JA. Hereditary angioedema. Acta Medica Colombiana. 2012;37(1):34-7.

  5. Salas Alanís J, Ocampo Garza J, Ocampo Candiani J. Urgencias dermatológicas. Dermatol Rev Mex. 2015;59:26-38.

  6. Valle SO, França AT, Campos RA, Grumach AS. Angioedema hereditário. Rev bras alerg imunopatol. 2010: 33, 80-7.

  7. Lumry WR. Overview of Epidemiology, Pathophysiology, and Disease Progression in Hereditary Angioedema. Am J Managed Care. 2013;19: S103-10.

  8. Boccon-Gibod I, Bouillet LL. Safety and efficacy of icatibant self-administration for acute hereditary angioedema. Clin Exp Immunol. 2012;168(3):303-7.

  9. Pineda Figueroa L, de Ariño Suárez M. Angioedema hereditario: causa rara de dolor abdominal. Cirugía y Cirujanos. 2014;82(5):563-66.

  10. Clavero FI, Uriarte AG, Medel GT, Setién PG. Uso profiláctico de icatibant en un caso de angioedema hereditario tipo III. Rev Española de Anestesiología Reanimación. 2014;61(7):375-81.

  11. Cicardi M, Aberer W, Banerji A, Bas M, Bernstein JA, Bork K, et al. Classification, diagnosis, and approach to treatment for angioedema: consensus report from Hereditary Angioedema International Working Group. Allergy. 2014;69:602-16.

  12. Zuraw BL, Banerji A, Bemstein JA, et al. US Hereditary Angioedema Association Medical Advisory Board 2013 Recommendations for the Management of Hereditary Angioedema Due to C1 Inhibitor Deficiency. J Allergy Clin Imunol Practice. 2013;1:458-67.

  13. Cobas CYG, Díaz SNG, Cruz AA, Weinmann AM, Hernández MDC. Manifestación atípica de angioedema hereditario. Comunicación de un caso y revisión de la literatura. Rev Alergia México. 2006;53(5):189-93.

  14. Fernández Romero DS, Di Marco P, Malbrán A. Angioedema hereditario: Historia familiar y manifestaciones clínicas en 58 pacientes. Medicina (Buenos Aires). 2009;69(6):601-6.

  15. Becerra AL, Morales DV. Angioedema hereditario: serie de casos y actualización de la bibliografía. Rev Alergia Mexico. 2009;56(2):50-2.




2020     |     www.medigraphic.com