Hereditary angioedema in Austria: prevalence and regional peculiarities

Abstract

SummaryBackgroundData on the prevalence and clinical features of Austrian patients with hereditary angioedema (HAE) with C1‐inhibitor (C1‐INH) deficiency (HAE‐1) or dysfunction (HAE‐2) are lacking.MethodsCurrent baseline data were collected in a national survey. The records of HAE patients at the Medical University of Graz were analyzed with regard to clinical characteristics.ResultsA total of 137 patients were identified, yielding a prevalence of 1 : 64,396. The median age at the onset of symptoms was 6.5 years, and the median age at the time of correct diagnosis 21.0 years. The median delay in diagnosis was 15.0 years for newly diagnosed patients without a family history of HAE. Patients with a family history of HAE received an immediate diagnosis. HAE patients without a family history of HAE and born before 1960 had to wait a median of 16.0 years until they were diagnosed correctly. Patients born after 1980 still experienced a median diagnostic delay of 6.5 years.ConclusionPatients with this condition still face an excessive diagnostic delay in some parts of Austria, or their disorder may even remain unrecognized by specialists. This underlines the need for better awareness of the disease.

Clinical Characteristics and Management of Angioedema Attacks in Polish Adult Patients with Hereditary Angioedema Due to C1-Inhibitor Deficiency

“…Taken together, our patient sample may be assumed to also be representative for a larger HAE patient population. Our data showed a higher prevalence of HAE type 1 (90% of the patients) over HAE type 2 (10%), confirming the findings from several other countries such as Switzerland (98.1%) [ 4 ], the UK (85%) [ 5 ], Italy (87%) [ 6 ], Greece (80.5%) [ 7 ], Sweden (93.2%) [ 8 ], Serbia (89%) [ 9 ], Romania (91.7%) [ 11 ], Belarus (84.4%) [ 12 ], Austria (80.2%) [ 13 ], Korea (90.8%) [ 16 ] and the USA (78.4%) [ 19 ]. The Slovenian cohort from 2013 consisted of five families with HAE type 1 (63%) and three families with HAE type 2 (37%) [ 10 ].…”

“…Increased vascular permeability leads to excessive fluid displacement and severe angioedema attacks that could be spontaneous or triggered by some factors such as trauma, psychological stress, pressure, infection and many others [ 3 ]. In our study, we aim (i) to determine clinical characteristics and (ii) current practice in the management of acute HAE attacks in Polish adult patients with HAE in comparison to cohorts in other European countries (Switzerland [ 4 ], the UK [ 5 ], Italy [ 6 ], Greece [ 7 ], Sweden [ 8 ], Serbia [ 9 ], Slovenia [ 10 ], Romania [ 11 ], Belarus [ 12 ] and Austria [ 13 ]) and outside of Europe (Asia [ 14 , 15 , 16 ], the United States of America [ 17 , 18 , 19 , 20 ] and Canada [ 21 ]). Nationwide cohort studies were performed in many countries to assess the clinical profile of patients, evaluate their treatment and identify factors influencing the course of the disease, but most likely, recently, there has been no cohort study involving such a large group of HAE patients from countries located in Central and Eastern Europe with a focus on the above-mentioned research goals.…”

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

“…The disease is inherited in an autosomal dominant manner. However, spontaneous occurrences have also been reported in up to a quarter of patients 2 Epidemiologic studies suggest that the prevalence varies from 1:10,000 to 1.5:100,000 9–12 . HAE has been reported infrequently from developing countries 13–21 .…”

“…However, spontaneous occurrences have also been reported in up to a quarter of patients 2 Epidemiologic studies suggest that the prevalence varies from 1:10,000 to 1.5:100,000. [9][10][11][12] HAE has been reported infrequently from developing countries. [13][14][15][16][17][18][19][20][21] There are no long-term follow-up studies and no data on genetics of HAE from India.…”

First Census of Patients with Hereditary Angioedema in the Canary Islands

“…Due to the clinical importance of establishing an accurate diagnosis and prescribe the required treatment to HAE patients, several countries such as Denmark [26], Saudi Arabia [27], Turkey [28], Japan [29], Portugal [30], Greece [31], Norway [32], Switzerland [33], Croatia [34], China [35], Romania [36], Austria [37], Puerto Rico [38], and New Zealand [39], among others, are designing their own patient registry in order to investigate the under-lying causes in HAE development, create protocols and facilities that helps clinicians to manage and diagnose the patients, improving the diagnosis delay.…”