Manejo del embarazo en pacientes con angioedema hereditario / Management of Pregnancy in Patients with Hereditary Angioedema

El angioedema hereditario es una rara enfermedad genética autosómica dominante que constituye una Inmunodeficiencia primaria por déficit del sistema del complemento. Se caracteriza por edemas recurrentes de la piel, mucosas y tejidos submucosos, que puede afectar cualquier parte del cuerpo; vía respiratoria y aparato digestivo. La complicación más temida es el edema de las vías respiratorias altas, que puede provocar la muerte por asfixia. El dolor abdominal puede simular un abdomen agudo. Los ataques pueden ser desencadenados por traumatismos, estrés, fármacos o infecciones. El diagnóstico se basa en el reconocimiento de las características clínicas y las alteraciones de laboratorio: presencia de C4 disminuido en suero y la ausencia o gran reducción del nivel o la función de C1 inhibidor. La enfermedad es más dura en las mujeres debido a que varía mucho con las hormonas, la menstruación y el embarazo; y es importante que los profesionales médicos sepan qué hacer cuando una paciente con esta enfermedad desea usar contraceptivos o está embarazada. El embarazo es una situación especial donde es vital el conocimiento del ginecobstetra sobre la enfermedad, su manejo profiláctico y terapéutico, pues no responde al tratamiento habitual del edema alérgico. Existen drogas contraindicadas durante la gestación. Su tratamiento de elección es la infusión de factor inhibidor de C1 del complemento. El plasma fresco congelado es una opción a considerar en caso de profilaxis a corto plazo o ataque agudo(AU)

Hereditary angioedema is a rare autosomal dominant genetic disease that constitutes a primary immunodeficiency due to deficiency of the complement system. It is characterized by recurrent edema of the skin, mucous membranes and submucosal tissues, which can affect any part of the body, respiratory tract and digestive system. The most feared complication is edema of the upper respiratory tract, which can cause death by asphyxia. Abdominal pain can simulate acute abdomen. Trauma, stress, drugs or infections can trigger seizures. The diagnosis is based on the recognition of the clinical characteristics and the laboratory alterations as the presence of decreased C4 in serum and the absence or great reduction of the level or inhibitor function of C1. This disease is more severe in women because it varies with hormones, menstruation and pregnancy; and it is important for medical professionals to know what to do when a patient with this disease wishes to use contraceptives or is pregnant. Pregnancy is a special moment when the obstetrician's knowledge of this disease, its prophylactic and therapeutic management are vital because this entity does not respond to the usual treatment of allergic edema, considering there are contraindicated drugs during pregnancy. Its treatment of choice is the infusion of complement C1 Inhibitor factor. Fresh frozen plasma is an option to consider in case of short-term prophylaxis or acute attack(AU)

Anesthetic considerations for a patient with hereditary angioedema - A clinical case / Considerações anestésicas perante um doente com angioedema hereditário - Caso clínico

Abstract Hereditary angioedema (HAE), with an estimated prevalence of 1:50,000, is a rare but potentially fatal disease. It may present with recurrent systemic edema of the subcutaneous tissue and mucous membranes. Patients with HAE are at increased risk for clinical worsening with surgical stress, and may develop respiratory distress syndrome due to impaired airway and hemodynamic instability. The perioperative management of these patients requires specific interventions. We present a clinical case of a woman, 50 years old, with HAE type II scheduled for ureteral stent placement via endoscopic approach.

Resumo O angioedema hereditário (AEH), com uma prevalência estimada de 1:50000 pessoas, é uma doença rara mas potencialmente fatal. Pode se apresentar com edema sistêmico recorrente do tecido subcutâneo e das mucosas. Os doentes com AEH têm um risco acrescido de agudização clínica com o estresse cirúrgico, podem desenvolver síndromes de dificuldade respiratória por compromisso da via aérea e de instabilidade hemodinâmica. A abordagem perioperatória desses doentes requer intervenções específicas. Apresentamos um caso clínico de uma mulher de 50 anos com AEH tipo II indicada para realizar ureteroscopia com colocação de stent.

Angioedema hereditario y embarazo / Hereditary angioedema and pregnancy

El angioedema hereditario es una enfermedad genética rara que se presenta en uno de cada 50 000 individuos, caracterizada por episodios de edema subcutáneo y submucoso. Las alteraciones hormonales pueden desencadenar una crisis y el embarazo afecta el número de los ataques. Se presentan dos casos clínicos de embarazadas con antecedentes personales de angioedema hereditario que presentaron crisis durante la gestación, el parto y el puerperio; las cuales evolucionaron de forma satisfactoria. Se realizó una revisión del tema(AU)

Hereditary angioedema is a rare genetic disease presenting in one out of every 50 000 individuals. The condition is characterized by episodes of subcutaneous and submucosal edema. Hormonal alterations may trigger a crisis and pregnancy affects the number of seizures. Two clinical cases are presented of pregnant women with a personal history of hereditary angioedema who had crises during pregnancy, delivery and puerperium, followed by satisfactory evolution. A review was conducted about the topic(AU)

Icatibant, an inhibitor of bradykinin receptor 2, for hereditary angioedema attacks: prospective experimental single-cohort study / Icatibanto, um inibidor de receptor 2 de bradicinina, para ataques de angioedema hereditário: estudo experimental prospectivo de coorte sem grupo controle

CONTEXT AND OBJECTIVE: Hereditary angioedema (HAE) with C1 inhibitor deficiency manifests as recurrent episodes of edema involving the skin, upper respiratory tract and gastrointestinal tract. It can be lethal due to asphyxia. The aim here was to evaluate the response to therapy for these attacks using icatibant, an inhibitor of the bradykinin receptor, which was recently introduced into Brazil. DESIGN AND SETTING: Prospective experimental single-cohort study on the efficacy and safety of icatibant for HAE patients. METHODS: Patients with a confirmed HAE diagnosis were enrolled according to symptoms and regardless of the time since onset of the attack. Icatibant was administered in accordance with the protocol that has been approved in Brazil. Symptom severity was assessed continuously and adverse events were monitored. RESULTS: 24 attacks in 20 HAE patients were treated (female/male 19:1; 19-55 years; median 29 years of age). The symptoms were: subcutaneous edema (22/24); abdominal pain (15/24) and upper airway obstruction (10/24). The time taken until onset of relief was: 5-10 minutes (5/24; 20.8%); 10-20 (5/24; 20.8%); 20-30 (8/24; 33.4%); 30-60 (5/24; 20.8%); and 2 hours (1/24; 4.3%). The time taken for complete resolution of symptoms ranged from 4.3 to 33.4 hours. Adverse effects were only reported at injection sites. Mild to moderate erythema and/or feelings of burning were reported by 15/24 patients, itching by 3 and no adverse effects in 6. CONCLUSION: HAE type I patients who received icatibant responded promptly; most achieved improved symptom severity within 30 minutes. Local adverse events occurred in 75% of the patients. .

CONTEXTO E OBJETIVO: O angioedema hereditário (AEH) com deficiência de inibidor de C1 manifesta-se por episódios recorrentes de edema envolvendo pele, trato respiratório superior e gastrointestinal. Pode ser letal por asfixia. O objetivo foi avaliar a resposta à terapia dos ataques com icatibanto, inibidor do receptor de bradicinina, recentemente introduzido no Brasil. TIPO DE ESTUDO E LOCAL: Estudo experimental prospectivo de coorte, sem grupo controle, da eficácia e segurança do icatibanto em paciente com AEH. MÉTODOS: Pacientes com diagnóstico confirmado de AEH foram incluídos de acordo com os sintomas, independentemente do tempo de início do ataque. Icatibanto foi administrado segundo protocolo aprovado no Brasil. A gravidade do sintoma foi estabelecida continuamente e os eventos adversos foram monitorados. RESULTADOS: 24 ataques em 20 pacientes com AEH foram tratados (19 F:1 M; 19-55 anos; mediana 29 anos). Os sintomas foram: edema subcutâneo (22/24), dor abdominal (15/24) e obstrução de vias aéreas superiores (10/24). O tempo para o início do alívio foi: 5-10 minutos, 5/24 (20,8%); 10-20, 5/24 (20,8%); 20-30, 8/24 (33,4%); 30-60, 5/24 (20,8%) e 2 horas, 1/24 (4,3%). O tempo para a resolução completa variou de 4,3-33,4 horas. Somente efeitos adversos nos locais das injeções foram relatados. Eritema leve a moderado e/ou sensação de ardor foram relatados por 15/24 pacientes, prurido em 3, e 6 não tiveram efeitos adversos. CONCLUSÃO: Pacientes com AEH tipo I receberam icatibanto com pronta resposta; a maioria teve melhora na gravidade dos sintomas em 30 minutos. Eventos adversos locais ocorreram em 75% dos pacientes. .

Migraine-like Headache in a Patient with Complement 1 Inhibitor Deficient Hereditary Angioedema

We report on an angioedema patient with a genetic defect in complement 1 inhibitor, manifesting migraine-like episodes of headache, effective prophylaxis with Danazol, and triptan for a treatment of acute clinical episode. The patient was 44-yr-old Korean man with abdominal pain and headache, who was brought into the Emergency Department of Seoul National University Hospital, Seoul. He suffered from frequent attacks of migraine-like headache (3-7 per month), pulsating in nature associated with nausea. Severities were aggravated by activity and his headache had shown recent progression with abdominal pain. No remarkable findings were observed on radiologic examination, brain magnetic resonance images and intracranial and extracranial magnetic resonance angiography. Danazol 200 mg every other day was subsequently used. Following administration of Danazol, symptoms showed improvement and the patient was discharged. While taking Danazol, the migraine-like episodes appeared to be prevented for about 2 yr. At the eighth month, he suffered a moderate degree of migraine-like headache; however, administration of naratriptan 2.5 mg resolved his problem. A case of genetic defect of C1-INH deficiency presented with headache episodes, and was controlled by Danazol and triptan. It suggests that pathogenic mechanism of headache in hereditary angioedema may be mediated by the neurogenic inflammatory-like physiology of migraine.