Hereditary angioedema: 24 years of experience in a Portuguese Reference Center.

Summary: Hereditary angioedema (HAE) poses a high burden of disease, being its epidemiological and clinical data heterogeneous among countries, with no recent published studies concerning Portuguese patients. Therefore, we aimed to raise awareness of HAE and to contribute to clinical knowledge. An observational, descriptive, retrospective, and cross-sectional study was performed, that included a cohort of 126 patients followed in a single Portuguese Center. We observed a high prevalence of HAE-C1-INH type II (45.2% of patients). Most HAE patients (67.4%) presented the initial manifestations of the disease before adulthood, at a mean age of 12.6 ± 8.4 years. However, we found a long delay in HAE diagnosis, especially in those without family history (mean 20.7 ± 17.3 years). Stress was the most common trigger, followed by trauma and infection. Symptoms involving different systems were increasingly reported with increased disease duration. Cutaneous symptoms (95.0%) were more frequent, followed by gastrointestinal (80.7%), and respiratory symptoms (50.4%). HAE symptoms led to abdominal surgery in 22 (17.5%) patients and induced laryngeal edema requiring intubation/tracheostomy in 8 (6.3%) patients. Most patients were under long-term prophylaxis, mainly with attenuated androgens (62.7% of patients).The correct distinction between HAE and other common causes of angioedema is critical, allowing reduction of diagnostic delay, improvement of adequate management, and ultimately improving outcomes and quality of life of HAE patients.

Omalizumab in chronic spontaneous and inducible urticaria: a 9 year retrospective study in Portugal.

Summary: Objective. Describe the safety and long-term use of omalizumab in chronic urticaria (CU), both spontaneous (CSU) and inducible (CIndU). Methods. Retrospective chart-review (2006-15) of CU patients treated with omalizumab for ≥ 6 months. Statistical analyses: descriptive statistics, Mann-Whitney, generalized linear models. Results. 23 patients with CSU (3 men), 3 with CIndU (2 men). Generalized linear models showed UAS reduction per omalizumab administration of 16% in CIndU and CSU and UAS7, of 15% in CIndU, and 20% in CSU. DLQI score at baseline had a median of 19 (CIndU and CSU) and after omalizumab a median of 0 (in both). Seven CSU patients stopped omalizumab and remain asymptomatic. No side-effects were observed. Conclusion. Omalizumab is safe and efficacious in CU. Stopping omalizumab can be tried, as some patients achieve remission.

Pediatric eosinophilic esophagitis in Portugal.

SUMMARY: Eosinophilic esophagitis (EoE) is an increasingly frequent diagnosis in our clinical practice, mainly in pediatric age. Allergic responses to food and aeroallergens have been increasingly implicated in the etiology of this disease. We describe a retrospective data analysis of pediatric EoE patients followed in our Immunoallergology Department. Of the 25 children (22 male, average 10.8 years), 88% had prior history of rhinoconjunctivitis, 76% asthma, 48% eczema and 36% food allergy. After evaluation, we identified in 76% and 92% of patients food and aeroallergen sensitization, respectively; 68% had simultaneously food and inhalant sensitization and 96% had at least one positive test to aeroallergens or food allergens. The first (44%) and the most frequent (56%) symptom was dysphagia. The time between symptoms onset and the EoE diagnosis averaged 18.6 ± 29.4 months. A multidisciplinary approach is needed for a correct evaluation, intervention and follow-up of these patients.