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Freie Universität Berlin

1. Pierchalla, Greta. Riechstörungen bei Patienten mit hereditärem Angioödem.

Degree: 2019, Freie Universität Berlin

Background: Hereditary angioedema (HAE) is a rare genetic disorder caused by mutations in the C1-esterase-inhibitor gene (SERPING-1). It leads to deficiency or malfunctioning of the C1-inhibitor causing recurrent swellings of different body parts. A recent study suggests an impaired sense of smell in patients with HAE, although the etiology remains to be elucidated. The aim of this study was to examine the olfactory function of patients with HAE treated at the Charité and investigate possible causes for olfactory impairment, especially the role of genetic mutations, quality of life, drug intake and specific laboratory values. Methods: Olfactory function of 31 patients with HAE (14m, 17f, MV 39,2±15,6y.) and a sex- and age-matched control group (14m, 17f, MV 41±16,2y.) was examined using the 3-stage sniffin' sticks - test (TDI: threshold, discrimination, identification). All study participants had to fill in validated questionnaires on rhinosinusitis and quality of life (RSOM-31 and SF-36) and nasal endoscopies were performed. Blood samples of 30 patients diagnosed with HAE were collected and genetic analysis were performed (PCR and MLPA®) to detect mutations in the SERPING-1. Furthermore, an array-based gene expression analysis of olfactory receptor genes (ORG) 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), according to age-standardized evaluation of the sniffin’ sticks score. No significant differences could be observed in the sub-results of the TDI. Interestingly, the ability to identify the smell of pineapple was significantly decreased in patients with HAE (p=0.013). Moreover, study participants with hyposmia had significantly lower levels of C1-inhibitor-concentration (p=0,026) and -activity (p<0.01) and C4 (p<0.01), which are typically decreased in patients with HAE. Although results of the SF-36 suggest that patients with HAE considered their health status to be poor, this did not affect the smelling test results. Comorbidities, medication and clinical examinations did not significantly differ between the two groups and had no influence on the results of TDI. The performed genetic analysis showed no genetic mutations of ORG on chromosome 11 that could explain the smell impairment of patients with HAE. Conclusion: This study corroborated previous evidence suggesting a decreased sense of smell in patients with HAE. Genetic alterations do not seem to be the cause of an impaired sense of smell in these patients. However, there appears to be a connection between complement system activity and olfactory function, which might be influenced by multiple factors. Advisors/Committee Members: female (gender), N.N. (firstReferee), N.N. (furtherReferee).

Subjects/Keywords: smell impairment; Hereditary Angioedema; sniffin' sticks; olfactory receptor genes; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Pierchalla, G. (2019). Riechstörungen bei Patienten mit hereditärem Angioödem. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-1819

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Pierchalla, Greta. “Riechstörungen bei Patienten mit hereditärem Angioödem.” 2019. Thesis, Freie Universität Berlin. Accessed December 14, 2019. http://dx.doi.org/10.17169/refubium-1819.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Pierchalla, Greta. “Riechstörungen bei Patienten mit hereditärem Angioödem.” 2019. Web. 14 Dec 2019.

Vancouver:

Pierchalla G. Riechstörungen bei Patienten mit hereditärem Angioödem. [Internet] [Thesis]. Freie Universität Berlin; 2019. [cited 2019 Dec 14]. Available from: http://dx.doi.org/10.17169/refubium-1819.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Pierchalla G. Riechstörungen bei Patienten mit hereditärem Angioödem. [Thesis]. Freie Universität Berlin; 2019. Available from: http://dx.doi.org/10.17169/refubium-1819

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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