Journal Information
Vol. 98. Issue 4.
Pages 240-249 (May 2007)
Vol. 98. Issue 4.
Pages 240-249 (May 2007)
Practical dermatology
DOI: 10.1016/S1578-2190(07)70437-7
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Practical Management of C1 Inhibitor Deficiency
Manejo Práctico del Déficit de C1 Inhibidor
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J. Pedraz??
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javierpedraz@aedv.es

Correspondence: Servicio de Dermatología, Hospital Universitario de la Princesa, C/ Diego de León, 62, 28006 Madrid, Spain.
, E. Daudén, A. García-Diez
Servicio de Dermatología, Hospital Universitario de La Princesa, Madrid, Spain
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Abstract

C1 inhibitor deficiency is a rare syndrome clinically characterized by recurrent episodes of swelling of subcutaneous tissue or angioedema. It can involve the skin, upper respiratory airways and abdomen. There are two main types: hereditary and acquired. Angioedema can involve practically any part of the cutaneous surface, it can cause lethal laryngeal edema and can present as gastrointestinal obstruction. The attacks can be triggered, in general, by trauma, drugs or infections. Diagnosis is confirmed by decreased serum levels of C4 and absence or marked decrease of the level or function of C1 inhibitor. Commonly employed drugs for prophylaxis and treatment of these patients include anabolic steroids, antifibrinolytic agents, and infusion of C1 inhibitor concentrate. Fresh frozen plasma is an option to be considered for short term prophylaxis or treatment of the acute attack. It is convenient to know this syndrome as it is a potentially life-threatening disease. Diagnosis of this rare syndrome is based on clinical features and characteristic alterations of laboratory tests. The acute attack should be treated as quickly as possible. Prophylactic therapy is indicated in certain circumstances (dental procedures, oral surgery).

Key words:
angioedema
C1 inhibitor deficiency
androgens
antifibrinolytics
Resumen

El déficit de C1 inhibidor es un raro síndrome caracterizado clínicamente por episodios recurrentes de tumefacción en el tejido celular subcutáneo o angioedema. Puede afectar a la piel, las vías respiratorias superiores y el abdomen. Se describen principalmente dos tipos: hereditario y adquirido. El angioedema puede afectar a prácticamente cualquier parte de la superficie cutánea, puede causar edema laríngeo mortal y cursar con características clínicas idénticas a una obstrucción del tracto gastrointestinal. Los ataques pueden ser desencadenados, de forma general por traumatismos, fármacos o infecciones. El diagnóstico se confirma mediante la presencia de C4 disminuido en suero y la ausencia o gran reducción del nivel o la función de C1 inhibidor. Los andrógenos atenuados, los agentes antifibrinolíticos y la infusión de concentrado de C1 inhibidor son los fármacos habitualmente utilizados en el manejo profiláctico y terapéutico de estos pacientes. El plasma fresco congelado es una opción a considerar en caso de profilaxis a corto plazo o ataque agudo. Es conveniente conocer este síndrome, ya que se trata de una enfermedad potencialmente mortal. El diagnóstico de este raro síndrome se basa en el reconocimiento de las características clínicas y en las alteraciones características de las pruebas de laboratorio. El tratamiento del ataque agudo se debe realizar lo más rápidamente posible. El tratamiento profiláctico está indicado en determinadas situaciones (manejo dental y cirugía oral).

Palabras clave:
angioedema
déficit C1 inhibidor
andrógenos
antifibrinolíticos
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Copyright © 2007. Academia Española de Dermatología y Venereología and Elsevier España, S.L.
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