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DOI: 10.1055/s-0038-1640884
Causes for smell impairment in patients with hereditary angioedema
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.
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
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