Dataset Information

Screening for hereditary angioedema (HAE) at 13 emergency centers in Osaka, Japan: A prospective observational study.

ABSTRACT: Hereditary angioedema (HAE) with deficiency of C1 inhibitor (C1-INH) is an autosomal-dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The objective is to study the incidence of HAE among patients who visit the emergency department.This was a 3-year prospective observational screening study involving 13 urban tertiary emergency centers in Osaka prefecture, Japan. Patients were included if they met the following criteria: unexplained edema of the body, upper airway obstruction accompanied by edema, anaphylaxis, acute abdomen with intestinal edema (including ileus and acute pancreatitis), or asthma attack. C1-INH activity and C4 level were measured at the time of emergency department admission during the period between July 2011 and June 2014.This study comprised 66 patients with a median age of 54.0 (IQR: 37.5-68.3) years. Three patients were newly diagnosed as having HAE, and 1 patient had already been diagnosed as having HAE. C1-INH activity levels of the patients with HAE were below the detection limit (<25%), whereas those of non-HAE patients (n = 62) were 106% (IQR: 85.5%-127.0%) (normal range, 70%-130%). The median level of C4 was significantly lower in the patients with HAE compared with those without HAE (1.2 [IQR: 1-3] mg/dL vs 22 [IQR: 16.5-29.5] mg/dL, P?

SUBMITTER: Hirose T

PROVIDER: S-EPMC5313030 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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Screening for hereditary angioedema (HAE) at 13 emergency centers in Osaka, Japan: A prospective observational study.

Hirose Tomoya T Kimbara Futoshi F Shinozaki Masahiro M Mizushima Yasuaki Y Yamamoto Hidehiko H Kishi Masashi M Kiguchi Takeyuki T Shiono Shigeru S Noborio Mitsuhiro M Fuke Akihiro A Akimoto Hiroshi H Kimura Takaaki T Kaga Shinichiro S Horiuchi Takahiko T Shimazu Takeshi T

Medicine 20170201 6

Hereditary angioedema (HAE) with deficiency of C1 inhibitor (C1-INH) is an autosomal-dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The objective is to study the incidence of HAE among patients who visit the emergency department.This was a 3-year prospective observational screening study involving 13 urban tertiary emergency centers in Osaka prefecture, Japan. Patients were included if they met the following criteria: unexplained edema of the bod ...[more]

PMID: 28178173

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Project description:BackgroundDespite the availability of guidelines for the specific treatment of hereditary angioedema (HAE) attacks, HAE morbidity and mortality rates remain substantial. HAE attacks are a major medical issue requiring specific treatment as well as a considerable socio-economic burden. We report a protocol designed to test whether a dedicated call centre is more effective than usual practice in the management of patients experiencing an HAE attack.Methods/designThis prospective, cluster-randomised, single-blind, parallel-group, multicentre trial evaluates the morbidity and consequent socio-economic costs of the management of patients experiencing an HAE attack by a dedicated call centre as compared to usual practice. The trial aims to recruit 200 patients. Patients in the intervention arm are provided with an SOS-HAE card with the call centre's freephone number that they can access in the case of an attack. The centre's mission is to provide recommended expert advice on early home treatment. The centre can route the call to a local emergency medical service with competency in HAE management or even arrange for the drugs needed for the specific treatment of an HAE attack to be sent to the emergency department of the local hospital. The primary outcome measure is the number of hospital admissions for an HAE attack. Each patient will be followed up every 2 months for 2 years. The study has been approved by the ethics committee (Comité de Protection des Personnes d'Ile de France 10; registration number: 2012-A00044-39; date of approval: 19 January 2012).DiscussionThe SOS-HAE protocol has been designed to address the handling of attacks experienced by patients with HAE in the home. The proposed trial will determine whether the setting up of a dedicated call centre is more effective than usual practice in terms of reducing morbidity as given by the numbers of hospital admissions. The results are also anticipated to have important implications in terms of socio-economic costs for both healthcare services and patients.Trial registrationClinicalTrials.gov NCT01679912 .

Project description:Introduction and objectivesDue to the lack of structured and systematic information available, the aim of this study was to describe the epidemiology, diagnosis, healthcare processes, and treatment patterns of hereditary angioedema (HAE) in Mexico. To achieve this, different data sources were consulted regarding medical literature, structured health system databases, and angioedema-specialized physicians (AEP) opinion regarding HAE.Material and methodsA mixed methods approach was conducted in 4 phases: I) systematic literature review (SLR) and meta-analysis according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines; II) review of national health system (NHS) databases and systematic reports; III) physician survey; and IV) an epidemiologic model. ICD 10 D84.1 encoded records from the NHS were used to estimate the number of patients with HAE attended and treated during 2019. A survey was implemented to increase understanding of the clinical profile and treatments used.ResultsA prevalence rate of 0.9/50 000 inhabitants was estimated for 2019. In the same year, an estimated 317 HAE type 1 patients were recorded in the NHS, aged ≥11 years old. The most frequent clinical symptoms were cutaneous edema (67.5%) and abdominal pain (47.9%). A severe episode with laryngeal edema appeared in 27.5% of cases. Acute episodes were mainly moderate to severe (77.0%), with an annual per capita frequency of emergency visits of 7.6 patient-year (range 1-12/patient-year). The main reasons for hospitalization corresponded to laryngeal facial, tongue, and abdominal edemas, representing 73.3% of annual ICD 10 D84.1 reported hospitalizations. The main treatments that patients with HAE received were fresh frozen plasma for acute attacks and danazol for short-term prophylaxis (STP).ConclusionsDespite efforts to make HAE visible, according to this study, cases recognized and treated in the NHS represent only 16.6% of the estimated prevalence.

Project description:BACKGROUND: Hereditary Angioedema due to C1-Inhibitor deficiency (HAE types I and II) is a monogenic disease characterized by sudden, self-limited episodes of cutaneous and mucosal swelling due to local deregulation of vascular permeability. Despite its monogenic pattern of inheritance, HAE exhibits great clinical variability and low genotype/phenotype correlation among those affected, which ultimately hinders therapeutic approach and probably underlies yet unknown genetic and environmental factors. METHODS: We studied whole-genome RNA expression of PBMCs in three HAE type-I families (accounting for 40 individuals), 24 of which carry the same R472X mutation in the C1-Inhibitor gene and show large variability in terms of disease expression. Those included in this study were analyzed according to the presence of mutation and/or clinical symptoms. RESULTS: Instead of a single, common disease-associated expression pattern, we found different transcriptome signatures in two of the families studied. In one of them (referred to as DR family), symptoms correlate with the upregulation of 35 genes associated to the biological response to viral infections (including RSADs, OAS, MX and ISG pathway members) and immune response. In another pedigree (Q family), disease manifestation is linked to the upregulation of 43 genes with diverse functions, including transcription and protein folding. Moreover, symptoms-free members of the Q pedigree display relatively higher expression of 394 genes with a wide diversity of functions. CONCLUSION: We found no evidence for a common altered PBMC expression pattern linked to HAE symptoms in the three families analyzed. All the data considered, differential gene expression in PBMCs do not seem to play a significant role in the predisposition or protection against HAE in the basal -between crises- conditions analyzed. Although the RNA expression pattern associated to the response to viral infections observed in the DR family supports the idea of infectious diseases as a modifying factor for HAE severity, large-scale studies would be needed to statistically associate such expression pattern to the development of this rare disease.

Dataset Information

Screening for hereditary angioedema (HAE) at 13 emergency centers in Osaka, Japan: A prospective observational study.

Publications

Screening for hereditary angioedema (HAE) at 13 emergency centers in Osaka, Japan: A prospective observational study.

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