Hemostatic gene polymorphisms in severe acute pancreatitis

Area of Science:

• Genetics
• Hematology
• Gastroenterology

Background:

• Systemic inflammation in acute pancreatitis (AP) involves coagulation system activation.
• Prothrombotic factors, including genetic polymorphisms like Factor V Leiden (FVL) and plasminogen activator inhibitor type 1 (PAI-1) 4G/5G, may contribute to microvascular thrombosis and organ injury in AP.
• Investigating the role of these genetic factors in AP pathogenesis is crucial.

Purpose of the Study:

• To investigate the association between Factor V Leiden (FVL) mutation and PAI-1 4G/5G polymorphisms and the occurrence of acute pancreatitis (AP).
• To determine if these prothrombotic genetic factors are linked to the severity of AP.
• To explore the potential role of these polymorphisms in complications such as septic infections and organ failure.

Main Methods:

• A case-control association study was conducted with 397 AP patients and 310 controls.
• Severe AP was classified using the Atlanta Classification criteria.
• Genotyping for FVL and PAI-1 4G/5G polymorphisms was performed using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry.

Main Results:

• Factor V Leiden (FVL) mutation was found in 3.3% of both severe and mild AP cases.
• The prothrombotic PAI-1 4G allele frequency showed a statistically significant difference between severe and mild AP, but this did not translate to clinical significance in terms of severity.
• Genotype distributions for FVL and PAI-1 polymorphisms did not differ significantly in patients with septic infectious complications or organ failure compared to those with mild AP.

Conclusions:

• The findings do not support the hypothesis that prothrombotic polymorphisms, specifically FVL mutation and PAI-1 4G/5G, are associated with the severity of acute pancreatitis.
• Further research may be needed to explore other genetic or environmental factors influencing AP severity.