The European Register of Hereditary Angioedema: Experience and Preliminary Results

Zingale, Lorenza C.; Bork, Konrad; Farkas, Henriette; Bygum, Anette; Bouillet, Laurence; Caballero, Teresa; Longhurst, Hilary; Bilo, Barbara; Bucher, C.; Perricone, Roberto; Cicardi, Marco

doi:10.1016/j.jaci.2006.12.449

Cited by 5 publications

(6 citation statements)

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“…The implementation of this registry was possible thanks to the first initiative of the Italian Network for C1-INH-HAE (ITACA) established in 2012, which in 2018 decided to expand its data collection framework to other European countries: Greece, Hungary, France, Romania [ 18 ]. The first attempt to form an European HAE registry was in 2002, involving centers from Italy, Germany, Hungary, Denmark, France, Spain, the UK, Norway, Poland, and Switzerland [ 14 ]. However, this enterprise was not maintained for many reasons.…”

Section: Discussionmentioning

confidence: 99%

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The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

Zanichelli

Farkas

Bouillet

et al. 2021

Clinic Rev Allerg Immunol

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Hereditary angioedema (HAE) is a rare condition, mostly due to genetic deficiency of complement C1 inhibitor (C1-INH). The rarity of HAE impedes extensive data collection and assessment of the impact of certain factors known to affect the course of this disabling and life-threatening disease. Establishing a global registry could assist to overcome such issues and provides valuable patient data from different countries. The HAE Global Registry is a disease-specific registry, with web-based electronic support, where data are provided by physicians and patients through a dedicated application. We collected data between January 1, 2018, and August 31, 2020. Data on 1297 patients from 29 centers in 5 European countries were collected. At least one attack was recorded for 497 patients during the study period. Overall, 1182 patients were diagnosed with HAE type 1 and 115 with type 2. At the time of database lock, 389 patients were taking long-term prophylactic medication, 217 of which were on danazol. Most recorded attacks affected the abdomen, were generally moderate in severity, and occurred in patients who were not on prophylactic treatment (70.6%, 6244/8848). The median duration of attacks was 780 min (IQR 290–1740) in patients on prophylactic medication and 780 min (IQR 300–1920) in patients not on continuous prophylactic medication. In conclusion, the establishment of a registry for C1-INH-HAE allowed collection of a large amount of data that may help to better understand the clinical characteristics of this disease. This information may enhance patient care and guide future therapeutic decisions.

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Section: Discussionmentioning

confidence: 99%

“…Country-based databases and registries also exist but have limitations in the number of entries and recruited patients [11][12][13]. An attempt to create a European registry started in 2002 but could not be maintained [14]. Here, we present the design and initial data from the first Hereditary Angioedema Global Registry (HGR).…”

Section: Introductionmentioning

confidence: 99%

The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

Zanichelli

Farkas

Bouillet

et al. 2021

Clinic Rev Allerg Immunol

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“…The data from this study will help further inform such data. In addition, the findings likely can be compared with those from other studies, including HAE registries, such as the Sweha-Reg [ 19 ], the European Register of HAE [ 20 ], and observational studies such as the HAE nationwide survey conducted in Denmark [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe): background and methodology

et al. 2012

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BackgroundHereditary angioedema (HAE) is a rare but serious disease marked by swelling attacks in the extremities, face, trunk, airway, or abdominal areas that can be spontaneous or the result of trauma and other triggers. It can be life-threatening due to the risk of asphyxiation. While there have been major advancements in our understanding of the immunogenetics of HAE, there are significant gaps in the literature regarding understanding of the humanistic and economic impact of the disease, particularly in Europe. The purpose of the HAE Burden of Illness Study-Europe (HAE-BOIS-Europe), the development and methodology of which is described here, is to better understand the management and impact of HAE from the patient perspective in Europe.Methods/DesignThis is a cross-sectional study in which retrospective data were also collected being conducted in Denmark, Germany and Spain. The study is open to patients ages 12 and older with a diagnosis of HAE-I or HAE-II. Data collection includes: (i) a survey on individuals’ health care resource use, direct and indirect medical costs, impact on work and school, treatment satisfaction, and emotional functioning (via the Hospital Anxiety and Depression Scale); and (ii) one-on-one interviews to collect detailed descriptive data and patient testimonials on the impact of HAE on patients’ health-related quality of life.DiscussionThe present manuscript describes the development and plans for implementing a multi-country European study with the aim of characterizing the humanistic and economic burden of HAE from the patient perspective. This study will help raise awareness of HAE as a rare but debilitating condition with wide-ranging impacts.

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“…Несмотря на то, что НАО относится к первичным иммунодефицитам, так как в патогенезе заболевания участвует компонент комплемента С1-ингибитора эстеразы, при данном состоянии не наблюдается типичных клинических проявлений первичных иммунодефицитов, таких как повышенная частота и тяжесть инфекционных, онкологических, аутоиммунных заболеваний [8].…”

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“…Ранняя диагностика НАО имеет важное прогностическое значение в отношении информированности пациентов о заболевании и терапевтических подходах, особенно в случае ургентных ситуаций, таких как отек верхних дыхательных путей [8,11,15].…”

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A case of medulloblastoma in a patient with hereditary angioedema with C1 inhibitor deficiency

Viktorova

Salnikova

Papusha

et al. 2022

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Hereditary angioedema (HAE) is a disease characterized by edema of various localizations. Though classified as primary immunodeficiencz the disease lacks manifestations characteristic for primary/secondary immunodeficiencies. Medulloblastoma is one of the most frequent central nervous system tumors in children. The presence of a hereditary orphan disease (HAE) does not contradict the development of oncological process of any localization. The combination of two different diseases in a particular patient requires special approaches to the treatment of each of them. In this article we describe a clinical case of medulloblastoma in a patient with HAE. We also describe our approach to preventive therapy in a patient with a genetically confirmed HAE with C1 inhibitor deficiency before the manifestation of clinical symptoms which was implemented in order to apply program complex therapy of medulloblastoma in his entirety, including surgical procedures and radiation therapy, under general anesthesia. The patient’s parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

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The European Register of Hereditary Angioedema: Experience and Preliminary Results

Cited by 5 publications

References 0 publications

The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe): background and methodology

A case of medulloblastoma in a patient with hereditary angioedema with C1 inhibitor deficiency

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