Association between hearing loss and hereditary ATTR amyloidosis.

Background: Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Methods: Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. Results: 74% were male, with a mean age of 72 ± 1.8 years. The main mutations were Val122Ile (n = 7) and Val30Met (n = 6). Objective hearing loss was detected in 17 patients (89%), whereas only 37% complained of hearing loss. ATTRv patients presented a different audiometric profile compared to patients of the same age with presbycusis: a higher prevalence and worse hearing thresholds compared to age-related expectations (ISO). Hearing loss affected all frequencies with, unexpectedly, mixed or conductive hearing loss (35%). According to the type of mutation, there was an increased rate of sensorineural or mixed/conductive hearing loss. Conclusions: the present study indicates that hearing loss is more prevalent and worse in patients with ATTRv amyloidosis than in the general population, while mostly clinically under-estimated. It suggests that ATTRv deposits could infiltrate the various anatomical structures of the inner and mild ear.

Pharyngo-laryngeal involvement in systemic amyloidosis with cardiac involvement: a prospective observational study.

Background: Systemic amyloidosis with cardiac involvement (CA) is a severe disease caused by the aggregation of misfolded proteins infiltrating organs and tissues and leading to their dysfunction. No study has yet focused on potential pharyngo-laryngeal impairments associated to CA. Our objective was to define its prevalence and describe pharyngo-laryngeal involvement patterns in a population with CA (light chain: AL, wild-type transthyretin: ATTRwt, variant transthyretin: ATTRv). Methods: Consecutive patients with a confirmed diagnosis of CA were prospectively investigated for pharyngo-laryngeal involvement. This included questionnaires on symptoms of dysphonia/dysphagia and quality of life Voice Handicap Index (VHI). In cases of dysphonia, a nasofibroscopy was performed to evaluate potential laryngeal organic lesions of amyloid infiltration and induced laryngeal dysfunction (mobility, glottic air leak). In cases of dysphagia, Video Endoscopy Swallowing Study (VESS) was performed to evaluate the presence of hypopharyngeal pooling at rest and during swallowing and the time of swallowing 80 ml of water. Results: Ninety-five CA patients were enrolled, of whom 19 were ATTRv, 36 AL and 40 ATTRwt. Their mean age was 73.8 ± 9.2 years and the sex ratio was 2.6 in favor of men. Dysphagia was reported in 17% of the patients and 40% had more specific oropharyngeal symptoms (food sticking, regurgitation, change in dietary habits), preceding the CA diagnosis by 7 (0-24) months. Recent weight loss was reported in 60% of the patients (mean loss of 10 ± 6.3 kg). VESS showed functional swallowing impairment in only 4 patients without any macroscopic organic lesion. Dysphonia was reported in 36% of the patients (44% and 47% in AL and ATTRv sub-groups, respectively) of whom 40% had functional or organic laryngeal abnormality (14% of vocal fold mobility dysfunction and 26% of abnormal mucosa) without any macroscopic-specific lesions of amyloid infiltration in these patients. Conclusions: This prospective study suggests, for the first time, that amyloid associated with CA could infiltrate the various anatomical structures of the pharyngo-larynx, responsible for functional impairment and potential nutritional depletion and poor quality of life.

Stevens-Johnson syndrome and toxic epidermal necrolysis: ear, nose, and throat description at acute stage and after remission.

IMPORTANCE: Ear, nose, and throat (ENT) lesions are frequently involved in Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN), although a detailed description is lacking in the literature. OBJECTIVES: To describe ENT lesions at the acute stage and follow-up in a large series of patients with SJS/TEN and identify factors associated with the severe ENT form. DESIGN, SETTING, AND PARTICIPANTS: Retrospective study of 49 patients with SJS/TEN hospitalized in a referral care center from 2005 to 2010. Patients who underwent a full ENT workup including examination and a nasal fiberoptic endoscopy by an otorhinolaryngologist in the acute phase and during follow-up at 2 and 12 months were included in the study. MAIN OUTCOMES AND MEASURES: Recorded variables included maximal body surface area (BSA) detachment, SCORTEN (Score of Toxic Epidermal Necrosis [a severity of illness score]), sites and type of ENT mucosal lesions, intensive care unit transfer, pulmonary infection, and mortality. "Severe ENT form" was defined by the occurrence of laryngeal lesions with the risk of airways obstruction. Clinical characteristics associated with severe ENT form were analyzed in univariate and multivariable analysis. RESULTS: Of the 49 patients who underwent a full ENT workup (female to male ratio, 1.1:1), ENT symptoms (eg, odynophagia, dysphagia, dysphonia, dyspnea, earache, nasal obstruction) occurred in 48 (98%). Dyspnea or dysphonia were significantly associated with severe ENT form (21% [P = .03] and 50% [P < .001], respectively). Topographic frequencies of lesions were as followed: lips and oral cavity (n = 46 [93%]) and pharynx and vestibule of the nose (n = 26 [53%]). Fourteen patients (29%) had severe ENT form. Findings for other recorded variables for those with vs without ENT examination are as follows: maximal BSA detachment (20% [0%-95%] vs 5.5% [0%-95%]; P = .004), SCORTEN (1 [0-5] vs 1 [0-5]; P = .54), intensive care unit transfer (10 [20%] vs 9 [19%]; P = .80), pulmonary infection (9 [18%] vs 6 [13%]; P = .10), and mortality (3 [6%] vs 5 [10%]; P = .70). In multivariable analysis, pulmonary infection was significantly associated with severe ENT form (odds ratio, 5.9 [95% CI, 1.1-32.8] [P = .04]). After remission of SJS/TEN, a complete ENT mucosal healing occurred in 36 patients (74%) at 2 months and in nearly all patients (n = 48 [98%]) at 1 year of follow-up. CONCLUSIONS AND RELEVANCE: Severe ENT form is associated with pulmonary infection and is easily detected by nasal fiberoptic endoscopy. ENT evaluation should be suggested when dysphonia or dyspnea is observed at the acute stage of SJS/TEN.

Cochlear implant outcomes in the elderly.

OBJECTIVE: This study aimed to review cochlear implantation with respect to surgical and auditory outcomes in subjects aged 70 years and older. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary referral centers. PATIENTS: Sixty-five patients aged 70 years or older at the time of implantation were compared to a group of patients aged <70 years. INTERVENTION: Patients underwent multichannel cochlear implantation with either the Clarion or Nucleus device. MAIN OUTCOME MEASURE: Presence or absence of surgical complications and auditory performance with open-set word and sentence recognition testing. RESULTS: In patients implanted at age 70 or older, significant improvement in speech understanding was demonstrated in performance scores using Consonant Nucleus Consonant words, Central Institute for the Deaf sentences, and Hearing in Noise Test sentences at 3, 6, and 12 months when compared to preimplantation scores. However, their performance was slightly poorer when compared to a control group of patients <70 years of age in the same measures at 3, 6, and 12 months. CONCLUSIONS: The elderly population showed significant improvement in auditory performance tests following cochlear implantation compared to their preimplantation scores but performed less well than younger patients.