目的:迟发性庞贝病(LOPD)是一种由酸性α-葡萄糖苷酶缺乏引起的罕见神经肌肉疾病。已经报道了巨舌症和吞咽障碍,但还没有研究关注其频率和功能对患者日常生活的影响。
方法:我们回顾了法国国家庞贝疾病登记处包括的法国17家医院的100名成人LOPD患者。吞咽生活质量问卷和悉尼燕子问卷由患者完成,专家进行了以吞咽为重点的医学检查,并为每位患者分配了Salassa评分。还记录了呼吸和运动功能。亚组分析根据Salassa评分比较有无吞咽困难的患者。
结果:32%的患者出现吞咽困难,通常轻度,但有时严重到需要经皮内镜胃造瘘术(1%)。据报道,每天有20%的患者吞咽困难,有18%的患者有愿望;9.5%的患者无法在家吃饭。我们有18%的患者出现了巨大的舌障碍,和11%有舌萎缩。只有15%的吞咽障碍患者被言语治疗师随访。吞咽困难与巨舌显著相关(p=0.015),疾病持续时间较长(p=0.032),和较低的体重指数(p=0.047)。
结论:LOPD的吞咽困难是常见的,并且具有显著的功能影响。医生通过系统检查舌头和吞咽问题来提高对这些症状的认识,如果需要,可以通过言语治疗师和营养师进行适当的多学科护理。
OBJECTIVE: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase.
Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients\' daily life.
METHODS: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score.
RESULTS: Thirty-two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home.
Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with
macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047).
CONCLUSIONS: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed.