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

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,  = 0.002), while nystagmus was associated with reduced risk of PF (OR 0.11, 95% CI 0.03, 0.42,  = 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 ( = 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).