Abstract：
OBJECTIVE: Lipoid proteinosis (LP) or Urbach-Wiethe disease (OMIM 247100) is a rare syndrome characterised by early vocal folds infiltration and subsequent multi-organ involvement. LP is often unrecognised and its associated hoarseness is overlooked. The main objective of the study was to investigate hoarseness in LP and implement a diagnosis among otolaryngologists.
METHODS: PubMed/MEDLINE and OMIM databases were systematically searched. Authors concentrated the search on published articles starting from the discovery of the pathogenesis of LP by Hamada et al. in 2002. Only cases in which a diagnosis was reported both clinically and through biopsy and/or genetic molecular testing were included. Characteristics of the LP cases were extracted from each included study. Results were obtained through Generalized Estimating Equations.
RESULTS: The search strategy yielded 217 articles, of which 74 (34.1%) met the selection criteria. A total of 154 cases were included. Hoarseness was described in all LP cases and clearly stated as the onset symptom in 68.8%. The onset was on average at 19 months of age (CI: 3.00-20.00), while the mean age at diagnosis was 15 years (CI: 10.00-30.00). Therefore, the diagnostic delay amounted to 13.42 years (CI: 8.00-23.83). Hoarseness alone was responsible for an LP diagnosis in only 14.3% of cases. In 43.5% of cases, genetic analysis of the ECM1 gene was performed and exon 6 was the most frequently altered portion.
CONCLUSIONS: Analysing the largest number of published cases, the study underlined that hoarseness is the key symptom for diagnosing LP since early childhood, though frequently overlooked.
METHODS: PubMed/MEDLINE and OMIM databases were systematically searched. Authors concentrated the search on published articles starting from the discovery of the pathogenesis of LP by Hamada et al. in 2002. Only cases in which a diagnosis was reported both clinically and through biopsy and/or genetic molecular testing were included. Characteristics of the LP cases were extracted from each included study. Results were obtained through Generalized Estimating Equations.
RESULTS: The search strategy yielded 217 articles, of which 74 (34.1%) met the selection criteria. A total of 154 cases were included. Hoarseness was described in all LP cases and clearly stated as the onset symptom in 68.8%. The onset was on average at 19 months of age (CI: 3.00-20.00), while the mean age at diagnosis was 15 years (CI: 10.00-30.00). Therefore, the diagnostic delay amounted to 13.42 years (CI: 8.00-23.83). Hoarseness alone was responsible for an LP diagnosis in only 14.3% of cases. In 43.5% of cases, genetic analysis of the ECM1 gene was performed and exon 6 was the most frequently altered portion.
CONCLUSIONS: Analysing the largest number of published cases, the study underlined that hoarseness is the key symptom for diagnosing LP since early childhood, though frequently overlooked.
摘要：
目的：脂类蛋白沉积症（LP）或Urbach-Wiethe病（OMIM247100）是一种罕见的综合征，其特征是早期声带浸润和随后的多器官受累。LP通常未被识别，其相关的声音嘶哑被忽视。该研究的主要目的是调查LP的声音嘶哑并在耳鼻喉科医师中进行诊断。
方法：系统检索PubMed/MEDLINE和OMIM数据库。作者将搜索集中在从Hamada等人发现LP发病机理开始的已发表文章上。2002年。仅包括临床和通过活检和/或遗传分子检测报告诊断的病例。从每个纳入的研究中提取LP病例的特征。通过广义估计方程得到结果。
结果：搜索策略产生了217篇文章，其中74人(34.1%)符合甄选标准。共纳入154例。在所有LP病例中均描述了声音嘶哑，并明确表示为68.8％的发作症状。平均发病时间为19个月（CI：3.00-20.00），而诊断时的平均年龄为15岁（CI：10.00-30.00）。因此,诊断延迟达13.42年(CI:8.00-23.83)。仅在14.3％的病例中，声音嘶哑是LP诊断的原因。在43.5%的案例中，对ECM1基因进行遗传分析,外显子6是最常见的改变部分.
结论：分析最大数量的已发表病例，这项研究强调，声音嘶哑是儿童早期诊断LP的关键症状，虽然经常被忽视。
方法：系统检索PubMed/MEDLINE和OMIM数据库。作者将搜索集中在从Hamada等人发现LP发病机理开始的已发表文章上。2002年。仅包括临床和通过活检和/或遗传分子检测报告诊断的病例。从每个纳入的研究中提取LP病例的特征。通过广义估计方程得到结果。
结果：搜索策略产生了217篇文章，其中74人(34.1%)符合甄选标准。共纳入154例。在所有LP病例中均描述了声音嘶哑，并明确表示为68.8％的发作症状。平均发病时间为19个月（CI：3.00-20.00），而诊断时的平均年龄为15岁（CI：10.00-30.00）。因此,诊断延迟达13.42年(CI:8.00-23.83)。仅在14.3％的病例中，声音嘶哑是LP诊断的原因。在43.5%的案例中，对ECM1基因进行遗传分析,外显子6是最常见的改变部分.
结论：分析最大数量的已发表病例，这项研究强调，声音嘶哑是儿童早期诊断LP的关键症状，虽然经常被忽视。
