Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review

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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)

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