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. 2021 Oct 24;16(1):448.
doi: 10.1186/s13023-021-02077-9.

Hearing problems in patients with hereditary gelsolin amyloidosis

Tuuli Mustonen  1   2 , Ville Sivonen  3 , Sari Atula  4 , Sari Kiuru-Enari  4 , Saku T Sinkkonen  3
Affiliations

Hearing problems in patients with hereditary gelsolin amyloidosis

Tuuli Mustonen et al. Orphanet J Rare Dis. .

Abstract

Background: Gelsolin amyloidosis (AGel amyloidosis) is a hereditary form of systemic amyloidosis featuring ophthalmological, neurological and cutaneous symptoms. Previous studies based mainly on patients' self-reporting have indicated that hearing impairment might also be related to the disease, considering the progressive cranial neuropathy characteristic for AGel amyloidosis. In order to deepen the knowledge of possible AGel amyloidosis-related hearing problems, a clinical study consisting of the Speech, Spatial and Qualities of Hearing Scale (SSQ) questionnaire, clinical examination, automated pure-tone audiometry and a speech-in-noise test was designed.

Results: Of the total 46 patients included in the study, eighteen (39%) had self-reported hearing loss. The mean scores in the SSQ were 8.2, 8.3 and 8.6 for the Speech, Spatial and Qualities subscales, respectively. In audiometry, the mean pure tone average (PTA) was 17.1 (SD 12.2) and 17.1 (SD 12.3) dB HL for the right and left ears, respectively, with no difference to gender- and age-matched, otologically normal reference values. The average speech reception threshold in noise (SRT) was - 8.2 (SD 1.5) and - 8.0 (SD 1.7) dB SNR for the right and left ears, respectively, which did not differ from a control group with a comparable range in PTA thresholds.

Conclusion: Although a significant proportion of AGel amyloidosis patients experience subjective difficulties in hearing there seems to be no peripheral or central hearing impairment at least in patients up to the age of 60 years.

Keywords: Automated audiometry; Gelsolin amyloidosis; Hearing loss; Speech Spatial and Qualities of Hearing Scale; Speech-in-noise.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
The median air-conduction thresholds and interquartile ranges for male (A) and female (B) subgroups compared with the age-matched ISO 7029 standard
Fig. 2
Fig. 2
Speech reception threshold in noise (SRT) versus pure tone average (PTA) in AGel amyloidosis patients and PTA-matched controls. A SRT vs PTA (dB). B Ln(SRT + 10) vs PTA (dB) with linear regression models. * There was no statistically significant difference in between the slopes (F(1, 133) = 1,321, p = 0.253) and the intercepts (F(1, 134) = 3.445, p = 0.066) of the regression models for the two groups
See this image and copyright information in PMC

References

    1. Kiuru-Enari S, Haltia M. Hereditary gelsolin amyloidosis. In: Said G, Krarup C, editors. Handbook of clinical neurology (Vol 115) Amsterdam: Elsevier B.V; 2013. pp. 659–681. - PubMed
    1. Gonzalez-Rodriguez J, Ramirez-Miranda A, Hernandez-Da Mota SE, Zenteno JC. TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies. Graefes Arch Clin Exp Ophthalmol. 2014;252(8):1267–1272. doi: 10.1007/s00417-014-2648-9. - DOI - PubMed
    1. Maramattom BV, Chickabasaviah YT. A new Indian family affected by gelsolin amyloidosis. Neurol India. 2013;61(6):673–675. doi: 10.4103/0028-3886.125372. - DOI - PubMed
    1. Sagnelli A, Piscosquito G, Di Bella D, et al. Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy. J Peripher Nerv Syst. 2017;22(1):59–63. doi: 10.1111/jns.12200. - DOI - PubMed
    1. Sridharan M, Highsmith WE, Kurtin PJ, et al. A patient with hereditary ATTR and a Novel AGel p.Ala578Pro amyloidosis. Mayo Clin Proc. 2018;93(11):1678–82. - PubMed

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