Prick-test with regular neumollergy provocation: negative.This was demonstrated analytically determining immunoglobulin E (IgE) serum within normal levels. It was decided to make a dermatological and allergological study after persistence, increased frequency (up to 10 outbreaks in 6 months) and severity of the episodes, allergic diseases and anaphylactic reaction were discarded. The outbreaks have increased to 2-3 a month. Nearly all cases were treated with steroids and antihistamines in both primary health care and hospital improving in 36 hours with or without treatment.ДЄfter a 10 month-course of evolution he suffers an episode of edema of tongue, uvula and pharynx and was treated as in other occasions. In several occasions he has experienced palpebral and facial edema, the first times repeating every 30 or 45 days, with no apparent cause. Patient and parents are pending genetic study.ДЄt 11 years of age he starts suffering recurrent angioedema of lower limbs, of pale reddish or whitish color, not associated to urticaria, painful to the touch and causing discomfort when appearing in joints. There are no evident backgrounds of recurrent angioedema on the maternal or paternal linage. Current weight is 52kg and height is 156cm, his body mass index is 21.37 being at the 75 th percentile.ДЄmong his family history, his father also suffers alpha-1 antitrypsin deficiency following no treatment and his maternal grandmotherВґs cousin died of systemic lupus erythematosus. Currently the young man suffers from non-allergic bronchial asthma with ongoing exacerbations that cause moderate effort dyspnea even following treatment with plusvent В®25/200mcg aerosol inhaler and montelukast 5mg. Alpha 1-antitrypsin values have been rising gradually with no need of specific treatment, ranging from 76.9mg/dl when the patient was one year old, to nearly normalizing at 14 years of age with 88.6mg/dl and no hepatic or gastrointestinal impact so far. Personal history of interest includes an alpha 1-antitrypsin deficiency made manifest when he was 9 months old after several episodes of bronchiolitis and follow-ups by Puerta del Mar university hospital (CГЎdiz). The present is the case of a teenager, native of CГЎdiz (Spain) whose parents gave informed consent for this presentation. We find ourselves before an illness with a great impact in the quality of life of those who suffer it and their families because of both recurrence and the severity of the symptoms.ДЄfter reviewing the existing literature, we have found associations between hereditary angioedema and autoimmune diseases such as thyroiditis, lupus erythematosus, SjГ¶grenВґs syndrome or inflammatory bowel disease but no other case associating alpha 1-antitrypsin deficiency with C1-inh deficiency. In this case, the administration of the only valid treatment to prevent death by this cause: C1 esterase inhibitor (C1-inh). The development of glottis edema in 25 to 30% of cases and 13% of deaths from asphyxia justify the need of an early diagnosis and the implementation of a prophylactic treatment to reduce severe symptoms that can compromise patientsВґ life. It presents with a wide range of clinical manifestations and is often erroneously diagnosed as an autoimmune disease or anaphylaxis. It is a rare disease, with low prevalence (between one and nine cases per 100,000 people). Hereditary angioedema (HAE) or QuinckeВґs edema (name given by its discoverer in 1882), is a genetic disease characterized by defined and deformational swelling involving skin, subcutaneous tissue, mucous membranes and sometimes viscera. El diagnГіstico definitivo de la enfermedad permitiГі instaurar un tratamiento adecuado a su patologГa, que consiste en la prevenciГіn de brotes que puedan comprometer la vida del paciente y, en el caso de que aparezcan, en la administraciГіn del complemento C1 inhibidor. Presentamos el caso de un adolescente varГіn con dГ©ficit de О±-1 antitripsina desde los seis meses de edad, con apariciГіn de angioedemas en piernas y brazos a los 11 aГ±os, diagnosticado de angioedema hereditario tipo I un aГ±o despuГ©s. La gravedad de la clГnica, junto a la baja prevalencia de la enfermedad y la necesidad de un tratamiento especГfico, hacen que el diagnГіstico y tratamiento de dicha patologГa sea aГєn una asignatura pendiente para el mГ©dico de familia en atenciГіn primaria. Aunque existen tres variedades, el tipo I es el mГЎs frecuente y es provocado por una deficiencia en la sГntesis del complemento C1 inhibidor. El angioedema hereditario es una enfermedad rara, de gran heterogeneidad en los sГntomas, manifestГЎndose con edema a nivel cutГЎneo, mucosa gastrointestinal y de laringe/faringe.

Edem de quincke