Abstract
BackgroundGelsolin 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.ResultsOf 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.ConclusionAlthough 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.
Highlights
Gelsolin amyloidosis (AGel amyloidosis) is a rare systemic amyloid disease with a fully penetrant autosomal dominant inheritance pattern [1]
AGel amyloidosis is caused by different point mutations in the gelsolin gene, c.640G>A being the major one and so far, the only mutation reported in Finland [1, 7, 8]
This study aims to collect comprehensive audiological information and to investigate the possible hearing impairment in a cohort of AGel amyloidosis patients
Summary
Gelsolin amyloidosis (AGel amyloidosis) is a rare systemic amyloid disease with a fully penetrant autosomal dominant inheritance pattern [1]. Uni- or bilateral facial palsy is considered as a hallmark of AGel amyloidosis but involvement of other cranial nerves, Mustonen et al Orphanet J Rare Dis (2021) 16:448 including vestibulocochlear nerve, has been observed as well [1, 12]. Both the facial nerve paresis and cutis laxa (abnormal laxity of skin) compromise oral functions and contribute to a lack of expression giving a mask-like impression [13]. Previous studies based mainly on patients’ self-reporting have indi‐ cated that hearing impairment might 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
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