RESUMEN
Hereditary angioedema (HAE) with C1 inhibitor deficiency is a genetic disorder that clinically manifests with attacks of angioedema in the subcutaneous and submucosal tissues, mainly in the extremities, abdomen, and upper airway. During attacks, vascular permeability is increased due to increased bradykinin (BK). This means that special therapies are needed for attacks that do not respond to traditional antiallergic therapies involving antihistamines, corticosteroids, and epinephrine. The recurring attacks may disable patients and lead to frequent visits to emergency rooms where misdiagnoses are common. HAE attacks may be fatal when upper-airway edema occurs, if proper treatment with a C1 inhibitor concentrate or BK receptor antagonist is not administered or an emergency tracheostomy is not performed. We propose a mnemonic method for the warning signs of HAE for the use as a diagnostic tool, i.e., the so-called "ABC" of the warning signs of HAE. The letters represent the following: A = Angioedema, B = Bradykinin, C = C1 inhibitor, D = Distress factors, E = Epinephrine nonresponsive, F = Family history, and G = Glottis/Gastrointestinal edema. To avoid fatalities, medical staff and patients, including family members, must be aware of HAE. An alphabetical mnemonic method has been developed and we hope it may benefit patients.
Asunto(s)
Angioedemas Hereditarios/diagnóstico , Angioedemas Hereditarios/tratamiento farmacológico , Antagonistas de los Receptores de Bradiquinina/uso terapéutico , Bradiquinina/análogos & derivados , Proteínas Inactivadoras del Complemento 1/deficiencia , Angioedemas Hereditarios/patología , Bradiquinina/metabolismo , Bradiquinina/uso terapéutico , Permeabilidad Capilar/genética , Permeabilidad Capilar/fisiología , Proteínas Inactivadoras del Complemento 1/genética , Proteína Inhibidora del Complemento C1 , Predisposición Genética a la Enfermedad/genética , Humanos , Receptores de Bradiquinina/metabolismoRESUMEN
BACKGROUND: Hereditary angioedema is an autosomal dominant inherited condition that is characterized by the local development of edema of the skin, subcutaneous tissue, and the walls of almost any organ, including the gastrointestinal and upper respiratory tracts. OBJECTIVE: To describe the clinical characteristics, diagnosis and treatment of six controlled patients with hereditary angioedema. PATIENTS AND METHODS: This paper presents clinical characteristics of six patients, four of them members of the same family, and two, isolated, non-family related cases. This contribution is a review of the latest literature related to diagnosis and treatment of hereditary angioedema. RESULTS: Hereditary angioedema is a rare clinical entity that has a complicated manifestation profile that requires to discard a wide series of differential diagnosis. Deeper knowledge of its genetics and physiopathology will allow us to explore new treatment alternatives in addition to those already available. CONCLUSIONS: By diffusion of isolated cases or familial cases series, as presented in this paper, the disease recognition and timely treatment will be reached.
Asunto(s)
Angioedemas Hereditarios , Adolescente , Algoritmos , Angioedemas Hereditarios/diagnóstico , Angioedemas Hereditarios/genética , Angioedemas Hereditarios/patología , Angioedemas Hereditarios/terapia , Bradiquinina/análogos & derivados , Bradiquinina/uso terapéutico , Proteína Inhibidora del Complemento C1/uso terapéutico , Danazol/uso terapéutico , Progresión de la Enfermedad , Femenino , Humanos , Cininas/antagonistas & inhibidores , Masculino , Linaje , Péptidos/uso terapéutico , Adulto JovenRESUMEN
Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. Lesions contain sterile fluid and break up easily resolving without scars. Blisters disappear when fluid accumulation resolves. We describe a patient developing recurrent acute edema blisters as a consequence of cutaneous hereditary angioedema attacks.