Angioedema hereditario / Hereditary angioedema

El angioedema hereditario es una enfermedad poco frecuente, con herencia autosómica dominante que se caracteriza por presentar edemas en piel y en la mucosa de diferentes órganos, fundamentalmente el tubo digestivo y el aparato respiratorio. Las manifestaciones clínicas pueden ser ligeras o graves, en dependencia de su intensidad y localización. Las formas más graves son el edema de la glotis y del tubo digestivo, que llegan a ocasionar síntomas como deshidratación intensa y dolor abdominal, el que puede confundirse con un abdomen agudo y llevar a una intervención quirúrgica innecesaria. El edema se caracteriza por no ser pruriginoso, no presentar aumento de la temperatura, no dejar godet al presionarlo y generalmente existen antecedentes familiares. No tiene predilección por sexo, ni por el color de la piel. Para su diagnóstico es necesario hacer un interrogatorio minucioso y exámenes complementarios del sistema complemento. Se han descrito dos formas clásicas denominadas angioedema hereditario tipo I y tipo II, el primero es el más frecuente. Recientemente se ha descrito el tipo III que se presenta solo en mujeres, sin alteración cuantitativa o cualitativa de C1-inhibidor y se asocia con el consumo de medicamentos o anticonceptivos orales que contienen estrógenos. El tratamiento se basa fundamentalmente en el uso de andrógenos atenuados o de los antifibrinolíticos, así como evitar los factores de riesgo en caso de que estos se conozcan. En los casos que presenten cuadros agudos se puede utilizar el plasma fresco congelado y un concentrado purificado de C1- inhibidor (Berinert-500) de uso endovenoso y de respuesta rápida; aunque sin ser muy efectiva se puede usar la epinefrina subcutánea. Los esteroides y los antihistamínicos no tienen ninguna efectividad en el tratamiento de estos pacientes(AU)

Hereditary angioedema is a rare disease with autosomal dominant inheritance that is characterized by edema in skin and mucosa of various organs, mainly gastrointestinal tract and the respiratory system. Clinical manifestations may be mild or severe, depending on their location and intensity. The most severe forms are edema of the glottis, and the edema of gastrointestinal tract which can cause severe dehydration and abdominal pain that can be confused with an acute abdomen and unnecessary surgery. The edema is characterized by not being itchy, no temperature rise, non-marking when pressed and usually have a family history. No predilection for sex, or skin color. Its diagnosis is necessary to make a thorough examination and additional tests of the complement system. They described two classic forms called HAE type I and type II, type I is the most common. Recently it described the type III that occurs only in females, without quantitative or qualitative alteration of C1 inhibitor and is associated with the consumption of drugs or oral contraceptives containing estrogen. The treatment is based primarily on the use of attenuated androgens or antifibrinolytic and avoiding risk factors if they are known. In cases of acute conditions present you can use fresh frozen plasma and purified C1 inhibitor concentrate (Berinert-500) for intravenous use and rapid response; but the use of subcutaneous epinephrine may not be very effective. Steroids and antihistamines have no effectiveness when used in these patients(AU)

I440V mutation in C1 esterase inhibitor gene in a patient with hereditary angioedema and its influence to the structure of C1 esterase inhibitor / 中华皮肤科杂志

Objective To assess the mutation in exon 8 of C1 esterase inhibitor(C1INH)gene in a patient with hereditary angioedema(HAE).Methods Genomic DNA was extracted from a female patient with HAE as well as her mother and a normal human control.The fragment of exon 8 of C1INH gene was amplified by PCR and inserted into plasmid carrier pUC19 with the help of ligase.Then,the recombinant plasmid was transformed into competent cells of E coli TG1 strains.After culture of positive transformant,plasmid DNA Was extracted and subjected to sequencing.SDS-PAGE and We:stem blot were performed on the sera of the patient to detect the concentration and function of C1INH protein.Results An A1677G mutation at exon 8 of C1INH gene.which resulted in a substitution of isoleucine to valine at codon 440,Was found in the patient who SUfiered from HAE type I.Additionally.SDS-PAGE and Western blot revealed that the molecular weight of C1INH protein was 96 000.but not 105 000 observed in noHnal human control.Conclusion The newly identified mutation 1440V.which is located at P4 residue of reactive center loop in C1INH.may result in conformational alteration of C1INH.

Sociodemographic and clinical characteristics, causal factors and evolution of a group of patients with chronic urticaria-angioedema

CONTEXT AND OBJECTIVE: Chronic urticaria-angioedema is a common, multiple-cause complaint. The aim was to investigate the sociodemographic and clinical characteristics, causal and aggravating factors and evolution of urticaria-angioedema. DESIGN AND SETTING: This was a descriptive prospective study carried out at the Dermatology outpatient clinic of Faculdade de Medicina de Botucatu, Universidade Estadual Paulista (Unesp). METHODS: A total of 125 patients with chronic urticaria-angioedema were evaluated to obtain sociodemographic data, anamnesis, dermatological and general clinical data and laboratory data, emphasizing causal and aggravating factors and complaint evolution. RESULTS: Chronic urticaria-angioedema occurred mainly in females (mean age: 35 years), but also in men (mean age: 32 years). White color and living in urban areas also predominated. There was no preferential time for symptoms to appear, and nighttime was the most commonly reported time for clinical worsening. Around half of the patients had urticaria associated with angioedema. There were no associated factors in most of the cases, and stress was the most commonly reported aggravating factor. The cause was ascertained in 37.6 percent of our cases. The mean duration of follow-up was 11.7 months. Around 60 percent of the patients evolved with the problem under control, 32 percent improved, 9 percent had no change in dermatological condition and only one patient worsened. CONCLUSIONS: Chronic urticaria-angioedema was more common among middle-aged women. It is a long-term disease, and its cause was explained in about one-third of the patients. Half of the patients presented disease control after treatment lasting an average of approximately one year.

CONTEXTO E OBJETIVO: Urticária-angioedema crônico é enfermidade freqüente, complexa e multicausal. O objetivo foi estudar as características sociodemográficas, clínicas, os fatores causais, agravantes e a evolução da enfermidade. TIPO DE ESTUDO E LOCAL: Descritivo e prospectivo, realizado no ambulatório de Dermatologia da Faculdade de Medicina de Botucatu, Universidade Estadual Paulista (Unesp). MÉTODOS: Foram avaliados pacientes com diagnóstico de urticária-angioedema crônico através de dados sociodemográficos, anamnese, exames dermatológico, clínico e laboratorial, com ênfase nos fatores causais, agravantes e na evolução da enfermidade. RESULTADOS: 125 pacientes foram incluídos, 95 mulheres e 30 homens. Predominaram mulheres de 30 a 40 anos e homens de 10 a 20 anos. A idade média foi de 35 anos para as mulheres e 32 anos para os homens. Predominaram pacientes de raça branca, residentes em zona urbana e casados. O tempo médio de doença foi de 45,6 meses e de cada lesão foi de 5,6 horas. A metade dos casos tinha surtos diariamente e associação de urticária com angioedema. Não houve horário preferencial de aparecimento dos surtos, mas o noturno foi o horário de piora mais citado. A causa foi esclarecida em 37,6 por cento, predominando as infecções. O estresse foi o agravante mais referido. O tempo médio de acompanhamento foi de 11,7 meses e 60 por cento evoluíram para o controle, 32 por cento melhoraram, 9 por cento mantiveram-se inalterados e um caso piorou. CONCLUSÕES: Urticária-angioedema ocorreu mais em mulheres de meia-idade. A causa foi esclarecida em um terço dos pacientes e metade deles teve controle da doença em aproximadamente um ano.

Hereditary Angioneurotic Edema of the Larynx: A Case Report and Literature Review / 대한이비인후과학회지

Hereditary angioneurotic edema (HAE) is an autosomal dominant disease that results from the deficiency of C1 esterase inhibitor (C1-INH) function. Urgent proper intervention of the upper airway is warranted to save the life of patients with the disease, which often causes acute airway obstruction. We present, with a review of literature, a case of 37-year old woman with HAE of larynx.

Oropharyngeal Angioedema Induced by Inhaled Histamine

Inhaled histamine used to measure airway responsiveness produces some side effects more frequently than does methacholine. It is possible that the inhaled histamine induces the side effects in asthmatics with increased end organ responsiveness to histamine. A 56-yr-old woman with chronic idiopathic angioedema presented with asthma-like symptoms. Methacholine challenge test was performed, with a negative result. Five days later, histamine inhalation test was done. FEV1 fell by 37% after inhalation of histamine concentration of 8 mg/mL. Immediately thereafter, severe angioedema on face, lips, and oropharyngeal area, foreign body sensation at throat, and hoarseness occurred. To assess end organ responsiveness to histamine, skin prick tests with doubling concentrations of histamine (0.03-16 mg/mL) were carried out on the forearm of the patient and six age- and sex-matched asthmatic controls. The wheal areas were measured. The patient showed greater skin responses than the controls. Regression analysis showed that the intercept and slope were greater than cut-off levels determined from six controls. The patient showed an increased skin wheal response to histamine, indicating the enhanced end organ responsiveness to histamine, which is likely to contribute to the development of the oropharyngeal angioedema by inhaled histamine.

Acquired C1 inhibitor deficiency associated with SLE / 대한내과학회지

Acquired C1 inhibitor deficiency is a rare syndrome which usually presents with episodes of angioedema. The association of lupus erythematosus and angioneurotic edema has been previously reported but is usually related to hereditary C1 inhibitor deficiency. Currently the relationship between acquired C1 inhibior deficiency and lupus erythematosus is being discussed. So we report the case of a previously healthy 28-year-old woman, who developed simultaneously and acquired angioneurotic edema and systemic lupus erythematosus.