Pancreatitis

Pancreatitis is characterized by recurring episodes of inflammation in the pancreas, which may lead to chronic pancreatitis, causing irreversible damage to pancreatic tissue and loss of both endocrine and exocrine functions. While the main causes include alcohol abuse, biliary lithiasis, and metabolic factors, a significant proportion of patients have no apparent cause for their condition.

Hereditary and idiopathic pancreatitis often begins in childhood or adolescence with an initial episode of acute pancreatitis, which may progress to a chronic form due to prolonged inflammation and tissue damage. Chronic pancreatitis increases the risk of developing diabetes and pancreatic cancer, particularly in patients who smoke or consume alcohol.

Genetic testing is valuable for identifying genetic causes of pancreatitis, distinguishing hereditary from idiopathic forms, and ruling out genetic syndromes such as Shwachman-Diamond and Johanson-Blizzard, which may present with pancreatitis episodes.

Conditions Covered by the GENOSOPHY® Pancreatitis Panel

Hereditary Pancreatitis (HP):

Caused by mutations in PRSS1, found in 60–80% of cases
Characterized by early onset of pancreatitis episodes, typically before age 20
Increased risk of pancreatic insufficiency and pancreatic cancer

Idiopathic Pancreatitis:

Chronic or recurrent pancreatitis with no identifiable cause
CFTR, SPINK1, CTRC mutations have been found in individuals with idiopathic forms

Syndromic Causes:

Johanson-Blizzard Syndrome (UBR1)
Shwachman-Diamond Syndrome (SBDS)

Who Should Get Tested?

Individuals with early onset of recurrent pancreatitis (children or young adults)
Individuals with a family history of pancreatitis
Patients with idiopathic pancreatitis, i.e., without known external triggers (alcohol, gallstones)
Individuals with chronic pancreatitis at risk of pancreatic insufficiency
Children with signs of pancreatic dysfunction potentially linked to genetic syndromes

Clinical Benefits

Diagnosis

Detection of pathogenic mutations related to hereditary or idiopathic pancreatitis
Differential diagnosis from other pancreatic disorders such as Shwachman-Diamond syndrome

Prognosis

Assessment of risk for progression to chronic pancreatitis or pancreatic cancer
Development of a personalized monitoring protocol

Management

Guidance for targeted treatment and nutritional interventions
Family genetic counseling to identify carriers and recommend preventive screening

Testing Process

Sample collection (blood or saliva)
Sequencing of 10 genes plus non-coding regulatory regions using Next Generation Sequencing (NGS) to detect pathogenic variants associated with pancreatitis
Results available in approx. 5 weeks

Optional services include consultation and result interpretation by professors of the Medical School of the National and Kapodistrian University of Athens.

Genes Included in the Panel

APOA5, APOC2, CFTR, CPA1, CTRC, FCGBP, GPIHBP1, PRSS1*, SPINK1, UBR1

Note: In addition to all exonic regions, the test analyzes variants in non-coding regions (e.g., promoters, introns) that may have clinical relevance. Sensitivity for detecting SNPs, indels, and CNVs is >99%. Slightly reduced sensitivity may apply to genes marked with an asterisk ().*