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The Epidemiology of PRSS1 Hereditary Pancreatitis and Its Clinical Implications: A Systematic Review
Denghao Wu1,2, Gorjana Radisic1,2, Sunita M C De Sousa1,3
1Adelaide Medical School, University of Adelaide.
Insights
Hereditary pancreatitis (HP) linked to PRSS1 gene variants typically begins in childhood, causing significant pain. Consistent reporting of clinical features and outcomes is needed for better diagnosis and management of this rare genetic disorder.
Area of Science:
- Genetics and Genomics
- Gastroenterology
- Rare Diseases
Background:
- PRSS1-associated hereditary pancreatitis (HP) is a rare autosomal dominant disorder.
- Early disease onset is a hallmark of PRSS1-HP.
- Epidemiology and clinical phenotypes are inconsistently reported.
Purpose of the Study:
- To systematically review and consolidate evidence on PRSS1-HP.
- To define the genetic landscape and clinical profile of PRSS1-HP.
- To identify implications for diagnosis and management.
Main Methods:
- Systematic review following PRISMA guidelines.
- Searched MEDLINE, EMBASE, and Cochrane CENTRAL.
- Narrative synthesis of data from 68 observational studies due to heterogeneity.
Main Results:
- Over 70% of PRSS1-HP cases present before age 18.
- Pain and reduced quality of life are common; assessment methods vary.
- R122H and N29I are common PRSS1 variants; pancreatic cancer risk is elevated but rarely documented.
Conclusions:
- PRSS1-HP presents early with significant pain, but clinical reporting is inconsistent.
- Standardized outcome measures are crucial for improved comparability.
- Longitudinal multicenter studies are needed for better prognostic insight.
Objectives:
PRSS1-associated hereditary pancreatitis (HP) is a rare autosomal dominant disorder characterized by early disease onset. Although PRSS1 variants are recognized as pathogenic factors, the epidemiology and clinical phenotype of PRSS1 hereditary pancreatitis remain inconsistently reported. This systematic review consolidates current evidence to define the genetic landscape, clinical profile, and implications for diagnosis and management.
Methods:
Following PRISMA guidelines, MEDLINE, EMBASE, and Cochrane CENTRAL were searched on January 6, 2025. All observational studies reporting genetic, clinical, or pain outcomes in PRSS1-associated hereditary pancreatitis were included. Methodological quality was appraised using Joanna Briggs Institute tools, and data were synthesized narratively due to study heterogeneity.
Results:
Sixty-eight studies from multiple countries met the inclusion criteria. Over 70% of individuals with PRSS1-associated HP presented before age 18, indicating early-onset disease. Pain and reduced quality of life were the most frequently reported clinical features, although assessment methods varied and validated instruments were used in only a few studies. Diabetes prevalence ranged from minimal in children to 14%-26% in adults, with inconsistent reporting of diabetes type. PRSS1 R122H and N29I were the most common pathogenic variants, with additional pathogenic, benign, unknown, and variants of uncertain significance also reported. Pancreatic cancer was rarely documented, despite the elevated lifetime risk in this cohort.
Conclusions:
PRSS1-associated HP is characterized by early disease onset and a substantial pain burden, but clinical reporting remains inconsistent. Standardized outcome measures and longitudinal multicenter studies are needed to improve comparability and prognostic insight.
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