Investigation of Mortality of Hereditary Angioedema in a Reference Center in Brazil.

BACKGROUND: Hereditary angioedema (HAE) is known for mortality when it is not treated properly. Many advances have occurred over the past decades that affected patients' lives. However, not all patient populations have access to the same diagnosis and treatment resources. OBJECTIVE: To evaluate mortality from HAE in a large cohort in a reference center in Brazil. Furthermore, the research intended to describe patients' life span, the asphyxia evolution, and factors related to the fatal outcome. METHODS: A cohort of 433 patients from 46 families was evaluated in this prospective and retrospective study. Families were organized in clusters and were given a verbal autopsy to arrange data collection for the deaths and analyze symptoms during life. Causes of death were classified as deaths from laryngeal edema (LE) or other causes. RESULTS: Of 433 patients evaluated, 254 were not given the diagnosis of HAE. A total of 75 fatal events were evaluated. Only 10 of 75 patients were given the diagnosis of HAE before death, and the HAE diagnosis was made after death in 65 of 75 patients using verbal autopsy. The final cause of death after the investigation was asphyxiation owing to LE in 39 of 75 (52%) and deaths owing to other causes in 36 of 75 (48%). Ten deaths had occurred in the past decade. Time from onset of symptoms to seeking medical assistance was a median of 4 hours, and the time to death was a median of 8 hours. Three patients received fresh-frozen plasma and none received medications specific to HAE attacks. Throat pain or discomfort was the most common symptom, experienced by 71.8% of patients. The most common mistaken diagnosis at the original death certificate was allergy or anaphylaxis. The life span of patients who died of LE was reduced by 20 years compared with those who died of other causes. CONCLUSIONS: Hereditary angioedema remains a threat to life in the studied population. The large number of patients who do not receive a diagnosis makes the situation even more severe and is responsible for most deaths. Death analyses add knowledge to an understanding of the diseases and their impact on patients' lives, improving the targeting of public health efforts.

Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study.

PURPOSE: There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many unresolved questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and identify factors influencing the infection. METHODS: We did a cross-sectional, multicenter study that included patients of any age affected by IEI and SARS-CoV-2 infection. The variables studied were sex, age, type of IEI, comorbidities (number and type), treatment in use for IEI, clinical manifestations and severity of SARS-CoV-2 infection. RESULTS: 121 patients were included: 55.4% female, ages from six months to 74 yo (median age = 25.1 yo). Most patients had predominantly antibody deficiency (n = 53). The infection was mostly asymptomatic (n = 21) and mild (n = 66), and one child had multisystem inflammatory syndrome (MIS-C). We could not observe sex-related susceptibility, and there was a weak correlation between age and severity of infection. The number of comorbidities was higher in severe cases, particularly bronchiectasis and cardiopathy. There were no severe cases in hereditary angioedema patients. Six patients aged 2 to 74 years died, three of them with antibody deficiency. CONCLUSION: The outcome was mild in most patients, but the Case Fatality Ratio was higher than in the general population. However, the type of IEI was not a determining factor for severity, except for complement deficiencies linked to milder COVID-19. The severity of SARS-CoV-2 infection seems to be more related to older age, a higher number of comorbidities and type of comorbidities (bronchiectasis and cardiopathy).