Hereditary pancreatitis other diagnostic studies

Genetic testing is generally done for the following genes PRSS1, CFTR, SPINK1 and CTRC. Predictive testing is done only after expert genetic counseling and may be considered for patients who have a first-degree relative with a known PRSS1 mutation. Predictive testing is not done for patients below 16 years of age. Predictive testing is usually not recommended for patients with SPINK1 or CFTR mutations.

• Genetic testing and genetic counselling is recommended for patients with hereditary pancreatitis.^[1]
• Patients with hereditary pancreatitis who require genetic testing need to be counselled before and after the genetic testing is done.^[2][1][3]
• Genetic testing is generally done for the following genes:^[4]
  • PRSS1
  • CFTR
  • SPINK1
  • CTRC

• Patients with any one of the following features should be considered for genetic testing:^[2][5]
  • A positive history of unexplained documented episode of pancreatitis in childhood
  • Idiopathic chronic pancreatitis before 25yr age
  • Family history of any mutations associated with hereditary pancreatitis
  • Recurrent acute attacks of pancreatitis of unknown etiology
  • A positive family history of any one of the following with an unknown etiology;
    • Recurrent acute pancreatitis
    • Idiopathic chronic pancreatitis
    • Childhood pancreatitis

• Predictive testing is done only after expert genetic counseling and may be considered for patients who have a first-degree relative with a known PRSS1 mutation.^[5][2]
• Predictive testing is not done for patients below 16 years of age.
• Predictive testing is usually not recommended for patients with SPINK1 or CFTR mutations.

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