ABSTRACT
El angioedema hereditario (AEH) es una enfermedad genética rara, con una prevalencia aproximada entre 1 por cada 50.000 habitantes, caracterizada por episodios de edemas a nivel subcutáneo y de mucosas (abdominal, genitourinario, respiratoria), siendo potencialmente mortal cuando hay afectación de la laringe. En Perú se estiman 600 pacientes con AEH. El AEH se puede clasificar del siguiente modo: con deficiencia del inhibidor de C1 (tipos I y II), y sin deficiencia del inhibidor de C1 (denominado anteriormente tipo III). El diagnóstico de laboratorio incluye prueba de complemento C4, prueba cuantitativa y cualitativa para inhibidor de C1 esterasa, y estudios genéticos.
Hereditary angioedema (HAE) is a genetic rare disease with a prevalence of approximately 1 per 50,000 inhabitants, characterized by episodes of edema at the subcutaneous level and mucous membranes (abdominal, genitourinary, respiratory), being potentially fatal when there is involvement of the larynx. In Peru, there are an estimated 600 patients with HAE. HAE can be classified as follows: with C1 inhibitor deficiency (types I and II), and without C1 inhibitor deficiency (previously called type III). Laboratory diagnosis includes C4 complement test, quantitative and qualitative tests for C1 inhibitor esterase, and genetic studies. In this first part of the Clinical Practice Guide, we present the recommendations for the diagnostic approach of HAE.
Subject(s)
Humans , Peru , Mass Screening , Clinical Laboratory Techniques , Diagnosis , Angioedemas, Hereditary , Societies, Medical , EdemaABSTRACT
El angioedema hereditario (AEH) es una enfermedad genética rara, con una prevalencia aproximada entre 1 por cada 50.000 habitantes, caracterizada por episodios de edemas a nivel subcutáneo y de mucosas (abdominal, genitourinario, respiratoria), siendo potencialmente mortal cuando hay afectación de la laringe. En Perú se estiman 600 pacientes con AEH. El AEH se puede clasificar del siguiente modo: con deficiencia del inhibidor de C1 (tipos I y II), y sin deficiencia del inhibidor de C1 (denominado anteriormente tipo III). El diagnóstico de laboratorio incluye prueba de complemento C4, prueba cuantitativa y cualitativa para inhibidor de C1 esterasa, y estudios genéticos. Existen tratamientos específicos a nivel mundial para crisis agudas y profilaxis en AEH. Sin embargo, en Perú el único tratamiento registrado actualmente es el ecallantide, útil en crisis agudas; además, podemos utilizar tratamientos alternativos como el ácido tranexámico y el danazol. En esta segunda parte de la Guía de Práctica Clínica, presentamos las recomendaciones para el manejo y el tratamiento del AEH.
Hereditary angioedema (HAE) is a genetic rare disease with a prevalence of approximately 1 per 50,000 inhabitants, characterized by episodes of edema at the subcutaneous level and mucous membranes (abdominal, genitourinary, respiratory), being potentially fatal when there is involvement of the larynx. In Peru, there are an estimated 600 patients with HAE. HAE can be classified as follows: with C1 inhibitor deficiency (types I and II), and without C1 inhibitor deficiency (previously called type III). Laboratory diagnosis includes C4 complement test, quantitative and qualitative test for C1 inhibitor esterase, and genetic studies. There are specific treatments worldwide for acute crises and prophylaxis in HAE; in Peru the only currently registered treatment is ecallantide, useful in acute crises; we can also use alternative treatments such as tranexamic acid and danazol. In this second part of the Clinical Practice Guide, we present the recommendations for the management and treatment of HAE.
Subject(s)
Humans , Societies, Medical , Therapeutics , Tranexamic Acid , Mass Screening , Angioedemas, Hereditary , Patients , Peru , Complement C4 , Clinical Laboratory Techniques , Diagnosis , Edema , Genetics , Mucous MembraneABSTRACT
La hidroa vacciniforme (HV) es una fotodermatosis poco frecuente, que usualmente se inicia en la infancia y mejora espontáneamente en la adolescencia. Se caracteriza por la presencia de pápulas, vesículas umbilicadas y costras hemorrágicas en áreas fotoexpuestas, que curan dejando cicatrices varioliformes. La histopatología de las lesiones cutáneas, al igual que la inmunofluorescencia directa, presenta hallazgos característicos pero inespecíficos. El diagnóstico se realiza en base a la correlación clínico-patológica. Recientemente, se ha encontrado una relación entre la HV, el virus de Epstein-Barr y el desarrollo de linfoma. El tratamiento consiste en medidas de fotoprotección, aunque en algunos pacientes se requiere del uso de drogas inmunosupresoras sistémicas
Hydroa vacciniforme (HV) is a rare photodermatosis that usually begins in childhood and improves spontaneously in the adolescence. It is characterized by the presence of papules, umbilicated vesicles and hemorrhagic crusts that heal with vacciniform scarring in photoexposed areas. The histopathology of the skin lesions, as well as the direct immunofluorescence findings, is characteristic but nonspecific. The diagnosis is achieved based on clinico-pathological correlation. A relationship between the HV, Epstein-Barr virus and the development of lymphoma has been recently found. The treatment consists of photoprotective measures, but some cases require the use of systemic immunosuppressive drugs
Subject(s)
Humans , Male , Adolescent , Female , Infant , Child, Preschool , Child , Hydroa Vacciniforme , Photosensitivity Disorders , Facial DermatosesABSTRACT
During infections, the presence of lymphocyte apoptosis both in peripheral blood and in lymphatic organs has been described. This kind of programmed cell death can be either induced by host control mechanisms aimed at eliminating infected lymphocytes and/or retaining immune system homeostasis, or by the pathogen in order to complete its life cycle, spreading the infection and/or suppressing the immune response. Thus, apoptosis has advantages and disadvantages for the host depending on the pathogen life cycle and/or the specificity of the lymphocyte population affected. Identification of the mechanisms involved in autoreactive or pathogen-specific lymphocyte apoptosis could lead to strategies designed to interfere immunologically or pharmacologically in favor of the host.