Hereditary angio-oedema in Denmark: a nationwide survey

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Udgivelsesdato: 2009-Jun-22
OriginalsprogEngelsk
TidsskriftBritish Journal of Dermatology
Vol/bind161
Sider (fra-til)1153-1158
ISSN0007-0963
DOI
StatusUdgivet - 22. jun. 2009

Fingeraftryk

Denmark
Precipitating Factors
Erythema
Rare Diseases
Surveys and Questionnaires
Laryngeal Edema
Skin
Private Practice
Hospital Departments
Family Physicians
Airway Obstruction
Exanthema
Medical Records
Organizations
Guidelines
Interviews

Citer dette

@article{bf362e80940511debe4e000ea68e967b,
title = "Hereditary angio-oedema in Denmark: a nationwide survey",
abstract = "Summary Background Hereditary angio-oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated. Objectives To identify and characterize all patients with HAE in Denmark and increase awareness of the disease. Methods Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published. Results Eighty-two patients were identified. The mean diagnostic delay was 16.3 years. Five patients had HAE type II. Forty-five patients reported a characteristic serpiginous rash (erythema marginatum). More than 90{\%} of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE. Conclusions The minimal prevalence of HAE in Denmark is approximately 1.41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.",
author = "A Bygum",
year = "2009",
month = "6",
day = "22",
doi = "10.1111/j.1365-2133.2009.09366.x",
language = "English",
volume = "161",
pages = "1153--1158",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",

}

Hereditary angio-oedema in Denmark: a nationwide survey. / Bygum, A.

I: British Journal of Dermatology, Bind 161, 22.06.2009, s. 1153-1158.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Hereditary angio-oedema in Denmark: a nationwide survey

AU - Bygum, A

PY - 2009/6/22

Y1 - 2009/6/22

N2 - Summary Background Hereditary angio-oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated. Objectives To identify and characterize all patients with HAE in Denmark and increase awareness of the disease. Methods Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published. Results Eighty-two patients were identified. The mean diagnostic delay was 16.3 years. Five patients had HAE type II. Forty-five patients reported a characteristic serpiginous rash (erythema marginatum). More than 90% of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE. Conclusions The minimal prevalence of HAE in Denmark is approximately 1.41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.

AB - Summary Background Hereditary angio-oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated. Objectives To identify and characterize all patients with HAE in Denmark and increase awareness of the disease. Methods Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published. Results Eighty-two patients were identified. The mean diagnostic delay was 16.3 years. Five patients had HAE type II. Forty-five patients reported a characteristic serpiginous rash (erythema marginatum). More than 90% of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE. Conclusions The minimal prevalence of HAE in Denmark is approximately 1.41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.

U2 - 10.1111/j.1365-2133.2009.09366.x

DO - 10.1111/j.1365-2133.2009.09366.x

M3 - Journal article

C2 - 19709101

VL - 161

SP - 1153

EP - 1158

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

ER -