Pancreatitis

What is pancreatitis?

Pancreatitis is an inflammation of the pancreas, an organ vital for digestion and the regulation of blood sugar levels. It can occur either as acute (sudden and severe) or as chronic (long-term and recurring). Pancreatitis can lead to serious complications if not treated in a timely manner. Diagnosis and understanding of the causes of pancreatitis can be supported by genetic testing, especially in cases where there is a hereditary predisposition.

About the test

The genetic test for pancreatitis examines the genes associated with an increased risk of developing the disease. The results are provided approximately 3 weeks after the samples are received at the laboratory.

The genes of pancreatitis

The genes most frequently associated with pancreatitis include:

• PRSS1: Mutations in this gene can lead to hereditary pancreatitis.
• CFTR: Mutations are linked to an increased risk of pancreatitis, mainly in combination with other factors.
• SPINK1: Mutations increase the risk for recurrent episodes of pancreatitis.
• CTRC: Associated with increased sensitivity of the pancreas to damage.

Detecting mutations in these genes can help determine the risk and guide the development of preventive strategies.

How can genetic testing for pancreatitis help?

Genetic testing offers several advantages:

• It distinguishes pancreatitis due to genetic factors from other causes, such as alcohol abuse or gallstones.
• It identifies individuals at increased risk, even before symptoms appear.
• It guides the choice of appropriate treatment or preventive strategies, especially in cases of recurring episodes.
• It allows for the implementation of measures to avoid triggering inflammation, such as avoiding smoking, adopting an appropriate diet, and abstaining from alcohol consumption.

Why is the genetic test for pancreatitis the best option?

• It detects the risk for pancreatitis before symptoms appear, providing time to implement preventive measures.
• The test is performed using oral swabs (saliva), making it suitable for all ages.
• The test can be conducted at any time, regardless of the individual’s condition (e.g., diet or medication).
• If there is a family history of pancreatitis, the test can determine whether children or other family members are at risk.

Genetic testing for pancreatitis in children

Genetic testing is particularly useful for children with a family history of pancreatitis or recurring symptoms. If genetic mutations such as those in PRSS1 are detected, preventive strategies can be adopted. Although the presence of mutations does not necessarily mean that the child will develop the disease, this information enables the doctor to design an appropriate dietary and medical strategy to reduce the risk.