Open Access
CC BY-NC-ND 4.0 · Laryngorhinootologie 2018; 97(S 02): S336
DOI: 10.1055/s-0038-1640884
Poster
Rhinologie: Rhinology

Causes for smell impairment in patients with hereditary angioedema

G Pierchalla
1   HNO-Klinik Charité, Campus Virchow-Klinikum, Berlin
,
U Förster-Ruhrmann
1   HNO-Klinik Charité, Campus Virchow-Klinikum, Berlin
,
M Magerl
2   Klinik für Dermatologie, Venerologie und Allergologie, Charité Berlin, Berlin
,
H Olze
1   HNO-Klinik Charité, Campus Virchow-Klinikum, Berlin
,
A Ellrich
2   Klinik für Dermatologie, Venerologie und Allergologie, Charité Berlin, Berlin
,
C Stieber
3   Humangenetik, Bonn
› Author Affiliations
› Further Information
Also available ateRef
 
 

    Background:

    The aim of this study was to examine the olfactory function of patients with hereditary angioedema (HAE) and to investigate whether genetic mutations, pre-existing conditions, quality of life, drug intake or specific laboratory values affect the sense of smell.

    Methods:

    Olfactory function of 31 patients with HAE and a sex- and age-matched control group was examined using the 3-stage “sniffin' sticks”-test (TDI: threshold, discrimination, identification). All study participants had to fill in an ENT-specific questionnaire (RSOM-31) and one for quality of life (SF-36). Furthermore nasal endoscopies were performed. Blood samples of 30 patients clinically diagnosed with HAE were collected and genetic analysis (PCR and MLPA) were performed to detect mutations in the SERPING 1 gene. An array-based gene expression analysis of olfactory receptor genes on chromosome 11 was carried out in these patients.

    Results:

    Patients with HAE suffered significantly more often from hyposmia than healthy controls (p < 0.01). The disease duration correlated negatively with the overall TDI-result and the olfactory threshold. Subjects with hyposmia had significantly lower levels of C1-inhibitor-concentration (p = 0.026), C1-inhibitor-activity (p < 0.01) and C4 (p < 0.01). Comorbidities, quality of life, drug intake and clinical findings in ENT examinations did not significantly differ between HAE patients and healthy controls and had no influence on the TDI-results. The genetic analysis showed no mutations of olfactory receptor genes on chromosome 11.

    Conclusion:

    This study corroborated previous evidence suggesting a decreased sense of smell in patients with HAE. Neither ENT-specific diseases, nor genetic alterations seem to be the cause of an impaired sense of smell in patients with HAE.


     

    No conflict of interest has been declared by the author(s).

    Greta Pierchalla
    HNO-Klinik Charité, Campus Virchow-Klinikum,
    Augustenburger Platz 1, 13353,
    Berlin

    Publication History

    Publication Date:
    18 April 2018 (online)

    © 2018. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

    Georg Thieme Verlag KG
    Stuttgart · New York