Hereditary angio-oedema with C1 inhibitor deficiency:
Characteristics and diagnostic delay of Czech patients from one
centre

J 2016

Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre

HAKL, Roman, P. KUKLÍNEK, P. KADLECOVÁ a Jiří LITZMAN

Základní údaje

Originální název

Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre

Autoři

HAKL, Roman (203 Česká republika, garant, domácí), P. KUKLÍNEK (203 Česká republika), P. KADLECOVÁ (203 Česká republika) a Jiří LITZMAN (203 Česká republika, domácí)

Vydání

Allergologia et immunopathologia, Barcelona, Elsevier Doyma SL, 2016, 0301-0546

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Španělsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.439

Kód RIV

RIV/00216224:14110/16:00088875

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.aller.2015.09.003

UT WoS

000376333200009

Klíčová slova anglicky

Hereditary; angio-oedema; Diagnostic delay; First symptoms

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 9. 11. 2016 15:26, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

Background: Hereditary angio-oedema (HAE) is manifested by repeated episodes of localisedsubcutaneous or sub-mucosal oedema. Symptoms are extremely variable in frequency, local isation, and severity. Atypical or mild clinical symptoms of the disease may lead to erroneous diagnosis, causing diagnostic delay. The goal of this study was to assess how diagnostic delay has changed over 33 years at a single referral centre. Methods: We analysed diagnostic delay and first symptoms of HAE in patients who were diagnosed at an immunology department between 1980 and 2013. Patient's records were analysed. Results: The median diagnostic delay in 77 HAE type 1 and 2 patients was seven (range, 0-42) years. The difference observed in diagnostic delay between probands (18 [0-42] years) and others (1 [0-37] year) was significant (p < 0.001). Our data show a significant negative correlation between the length of diagnostic delay and the year of diagnosis in our group of patients (p= 0.024). The median age of first symptoms among all HAE patients (N=64) was 17 (1-40) years. The first symptoms of HAE in 64 patients were analysed. Twenty-six patients had abdominal, seventeen peripheral, five facial, two urogenital, and three had laryngeal oedema as the first manifestation of the disease. The last death that was attributed to HAE was in 1977. Conclusions: Our observations demonstrate improved awareness of HAE among physicians, as documented by the significant decrease in diagnostic delay. It is believed that earlier treatment will improve patient quality of life and life expectancy.

Návaznosti

MUNI/A/1182/2014, interní kód MU

Název: Některé laboratorní a klinické aspekty humorálních imunodeficiencí (Akronym: HUMID)

Investor: Masarykova univerzita, Některé laboratorní a klinické aspekty humorálních imunodeficiencí, DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

NV15-28732A, projekt VaV

Název: Vliv granulocytů a monocytů na vznik a rozvoj imunodeficitních chorob a dalších imunopatologických dějů

Citovat

HAKL, Roman, P. KUKLÍNEK, P. KADLECOVÁ a Jiří LITZMAN. Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. Allergologia et immunopathologia. Barcelona: Elsevier Doyma SL, 2016, roč. 44, č. 3, s. 241-245. ISSN 0301-0546. Dostupné z: https://dx.doi.org/10.1016/j.aller.2015.09.003.

@article{1351367,
   author = {Hakl, Roman and Kuklínek, P. and Kadlecová, P. and Litzman, Jiří},
   article_location = {Barcelona},
   article_number = {3},
   doi = {http://dx.doi.org/10.1016/j.aller.2015.09.003},
   keywords = {Hereditary; angio-oedema; Diagnostic delay; First symptoms},
   language = {eng},
   issn = {0301-0546},
   journal = {Allergologia et immunopathologia},
   title = {Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre},
   volume = {44},
   year = {2016}
}

TY  - JOUR
ID  - 1351367
AU  - Hakl, Roman - Kuklínek, P. - Kadlecová, P. - Litzman, Jiří
PY  - 2016
TI  - Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre
JF  - Allergologia et immunopathologia
VL  - 44
IS  - 3
SP  - 241-245
EP  - 241-245
PB  - Elsevier Doyma SL
SN  - 03010546
KW  - Hereditary
KW  - angio-oedema
KW  - Diagnostic delay
KW  - First symptoms
N2  - Background: Hereditary angio-oedema (HAE) is manifested by repeated episodes of localisedsubcutaneous or sub-mucosal oedema. Symptoms are extremely variable in frequency, local isation, and severity. Atypical or mild clinical symptoms of the disease may lead to erroneous diagnosis, causing diagnostic delay. The goal of this study was to assess how diagnostic delay has changed over 33 years at a single referral centre. Methods: We analysed diagnostic delay and first symptoms of HAE in patients who were diagnosed at an immunology department between 1980 and 2013. Patient's records were analysed. Results: The median diagnostic delay in 77 HAE type 1 and 2 patients was seven (range, 0-42) years. The difference observed in diagnostic delay between probands (18 [0-42] years) and others (1 [0-37] year) was significant (p < 0.001). Our data show a significant negative correlation between the length of diagnostic delay and the year of diagnosis in our group of patients (p= 0.024). The median age of first symptoms among all HAE patients (N=64) was 17 (1-40) years. The first symptoms of HAE in 64 patients were analysed. Twenty-six patients had abdominal, seventeen peripheral, five facial, two urogenital, and three had laryngeal oedema as the first manifestation of the disease. The last death that was attributed to HAE was in 1977. Conclusions: Our observations demonstrate improved awareness of HAE among physicians, as documented by the significant decrease in diagnostic delay. It is believed that earlier treatment will improve patient quality of life and life expectancy.
ER  -

HAKL, Roman, P. KUKLÍNEK, P. KADLECOVÁ a Jiří LITZMAN. Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. \textit{Allergologia et immunopathologia}. Barcelona: Elsevier Doyma SL, 2016, roč.~44, č.~3, s.~241-245. ISSN~0301-0546. Dostupné z: https://dx.doi.org/10.1016/j.aller.2015.09.003.

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