{"title":"Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.","authors":"Dongru Du, Ting Yang, Huajing Wan, Fengming Luo","doi":"10.1177/17534666251374241","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by excessive bleeding, oculocutaneous albinism, and pulmonary fibrosis (PF). However, few studies have systematically summarized the clinical characteristics of HPS.</p><p><strong>Objectives: </strong>To summarize the clinical characteristics, risk factors of PF, radiological and pathological presentations, and prognostic factors in patients with HPS.</p><p><strong>Design: </strong>A systematic review.</p><p><strong>Data sources and methods: </strong>We searched PubMed, Embase, Web of Science, and Scopus for eligible studies and extracted patient-level data of clinical characteristics, diagnosis of PF, radiological and pathological features, outcomes, and survival time. Categorial variables were presented as numbers (proportions) and compared using the chi-square test. Univariate and multivariate logistic regression analyses were applied to identify potential risk factors of PF. Kaplan-Meier curve, log-rank test, and Cox regression models were performed for survival analysis and prognostic factors.</p><p><strong>Results: </strong>A total of 186 patients from 112 eligible studies were included. Ocular albinism was associated with increased risk of PF (OR 9.08, 95% CI 2.26, 36.41, <i>p</i> = 0.002), while nystagmus was associated with reduced risk of PF (OR 0.11, 95% CI 0.03, 0.42, <i>p</i> = 0.001). Ground glass opacity (77.9%) was the most common radiological pattern, and ceroid deposition (66.7%) was the most common pathological pattern in HPS-associated PF (HPS-PF). Significant improvements in survival time were observed in patients who received an antifibrotic drug or lung transplantation (<i>p</i> = 0.042). However, no significant prognostic factor was identified in multivariate Cox regression analyses.</p><p><strong>Conclusion: </strong>Ocular albinism may serve as a risk factor, while nystagmus may serve as a protective factor of PF in HPS patients. Applying antifibrotic drugs or lung transplantation may improve the outcome and survival time of patients with HPS-PF. Future prospective studies with a large sample size were needed to verify these results and identify potential prognostic factors.</p><p><strong>Trial registration: </strong>This systematic review was registered in PROSPERO (CRD42024623580).</p>","PeriodicalId":22884,"journal":{"name":"Therapeutic Advances in Respiratory Disease","volume":"19 ","pages":"17534666251374241"},"PeriodicalIF":3.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417671/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Therapeutic Advances in Respiratory Disease","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/17534666251374241","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/9/7 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by excessive bleeding, oculocutaneous albinism, and pulmonary fibrosis (PF). However, few studies have systematically summarized the clinical characteristics of HPS.
Objectives: To summarize the clinical characteristics, risk factors of PF, radiological and pathological presentations, and prognostic factors in patients with HPS.
Design: A systematic review.
Data sources and methods: We searched PubMed, Embase, Web of Science, and Scopus for eligible studies and extracted patient-level data of clinical characteristics, diagnosis of PF, radiological and pathological features, outcomes, and survival time. Categorial variables were presented as numbers (proportions) and compared using the chi-square test. Univariate and multivariate logistic regression analyses were applied to identify potential risk factors of PF. Kaplan-Meier curve, log-rank test, and Cox regression models were performed for survival analysis and prognostic factors.
Results: A total of 186 patients from 112 eligible studies were included. Ocular albinism was associated with increased risk of PF (OR 9.08, 95% CI 2.26, 36.41, p = 0.002), while nystagmus was associated with reduced risk of PF (OR 0.11, 95% CI 0.03, 0.42, p = 0.001). Ground glass opacity (77.9%) was the most common radiological pattern, and ceroid deposition (66.7%) was the most common pathological pattern in HPS-associated PF (HPS-PF). Significant improvements in survival time were observed in patients who received an antifibrotic drug or lung transplantation (p = 0.042). However, no significant prognostic factor was identified in multivariate Cox regression analyses.
Conclusion: Ocular albinism may serve as a risk factor, while nystagmus may serve as a protective factor of PF in HPS patients. Applying antifibrotic drugs or lung transplantation may improve the outcome and survival time of patients with HPS-PF. Future prospective studies with a large sample size were needed to verify these results and identify potential prognostic factors.
Trial registration: This systematic review was registered in PROSPERO (CRD42024623580).
背景：Hermansky-Pudlak综合征（HPS）是一种罕见的疾病，以大量出血、皮肤白化病和肺纤维化（PF）为特征。然而，很少有研究系统地总结了HPS的临床特点。目的：总结HPS患者PF的临床特点、危险因素、影像学病理表现及预后因素。设计：系统回顾。数据来源和方法：我们检索了PubMed、Embase、Web of Science和Scopus等符合条件的研究，并提取了临床特征、PF诊断、放射学和病理特征、结局和生存时间等患者水平的数据。分类变量以数字（比例）表示，并使用卡方检验进行比较。采用单因素和多因素logistic回归分析确定PF的潜在危险因素，采用Kaplan-Meier曲线、log-rank检验和Cox回归模型进行生存分析和预后因素分析。结果：112项符合条件的研究共纳入186例患者。眼白化与PF风险增加相关（OR 9.08, 95% CI 2.26, 36.41, p = 0.002），而眼球震颤与PF风险降低相关（OR 0.11, 95% CI 0.03, 0.42, p = 0.001）。hps相关性PF （HPS-PF）最常见的影像学表现为磨玻璃样混浊（77.9%），而ceroid沉积（66.7%）是最常见的病理表现。接受抗纤维化药物或肺移植的患者的生存时间有显著改善（p = 0.042）。然而，在多变量Cox回归分析中没有发现显著的预后因素。结论：眼白化可能是HPS患者发生PF的危险因素，而眼球震颤可能是保护因素。应用抗纤维化药物或肺移植可改善HPS-PF患者的预后和生存时间。未来需要大样本量的前瞻性研究来验证这些结果并确定潜在的预后因素。试验注册：该系统评价在PROSPERO注册（CRD42024623580）。
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