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Pharyngo-laryngeal involvement in systemic amyloidosis with cardiac involvement: a prospective observational study.
Amyloid ( IF 5.5 ) Pub Date : 2019-07-31 , DOI: 10.1080/13506129.2019.1646639
Sophie Bartier 1, 2, 3, 4 , Diane Bodez 2, 3, 5, 6, 7 , Mounira Kharoubi 2, 3, 5, 7 , Florence Canouï-Poitrine 5, 8 , Véronique Chatelin 4 , Carole Henrion 2, 3, 5, 7 , André Coste 1, 4, 5, 6, 9 , Thibaud Damy 2, 3, 5, 7 , Emilie Béquignon 1, 4, 5, 6, 9
Affiliation  

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.



中文翻译:

咽喉累及全身性淀粉样变性伴心脏受累:一项前瞻性观察研究。

背景:伴有心脏受累(CA)的系统性淀粉样变性病是一种严重的疾病,由错误折叠的蛋白质聚集并渗入器官和组织引起,并导致其功能障碍。尚无针对与CA相关的潜在咽喉损伤的研究。我们的目标是确定其患病率,并描述患有CA的人群(咽链:AL,野生型运甲状腺素蛋白:ATTRwt,变异运甲状腺素蛋白:ATTRv)的咽喉感染模式。

方法:对确诊为CA的连续性患者进行咽喉侵犯的前瞻性研究。这包括关于声纳/吞咽困难症状和生活质量语音障碍指数(VHI)的问卷。对于发声困难的患者,进行鼻镜检查以评估潜在的喉部器质性淀粉样蛋白浸润和诱发的喉功能障碍(活动性,声门漏气)。在吞咽困难的情况下,进行了视频内窥镜吞咽研究(VESS),以评估静息和吞咽期间以及吞咽80毫升水时下咽池的存在。

结果:招募了95名CA患者,其中19例为ATTRv,36例AL和40例ATTRwt。他们的平均年龄为73.8±9.2岁,男女之比为2.6。据报道,在CA诊断之前7(0-24)个月,有17%的患者出现吞咽困难,而40%的患者出现了更特殊的口咽症状(食物粘连,反流,饮食习惯改变)。据报道,最近有60%的患者体重减轻(平均体重减轻10±6.3 kg)。VESS仅4例显示功能性吞咽障碍,无任何宏观器质性病变。据报告,有36%的患者患有声困难(AL和ATTRv亚组分别为44%和47%,

结论:这项前瞻性研究首次表明,与CA相关的淀粉样蛋白可以浸润咽喉的各种解剖结构,从而导致功能受损,潜在的营养消耗和不良的生活质量。

更新日期:2019-07-31
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