Presentation: Patient with unexplained acute or chronic pancreatitis

A 19-year-old man presents with acute abdominal pain and vomiting. He is diagnosed with acute pancreatitis. He reports that this is his third attack in two years. There is no history of gallstones, and he consumes around 10 units of alcohol per week.

• Inherited pancreatitis is rare, with an estimated prevalence in Europe of one to six per million individuals, but it should be considered where there is no identifiable acquired cause.
• You should consider genomic testing for any patient with an unexplained acute recurrent idiopathic pancreatitis, and for those whose first episode of acute pancreatitis occurred under the age of 35, as these are associated with pathogenic genetic variants.
• In a patient whose acute or chronic pancreatitis has no identifiable acquired cause (such as gallstones or a history of excessive alcohol intake), the National Genomic Test Directory eligibility criteria for genomic testing is one of the following:
  • a clinical diagnosis of recurrent acute pancreatitis (at least two attacks);
  • chronic pancreatitis;
  • the first episode of acute pancreatitis occurring below 18 years old; or
  • the first episode of acute pancreatitis occurs at any age and with a first-degree relative who has had pancreatitis.
• If your patient does not meet these criteria but you have a strong clinical suspicion of an inherited cause, discuss with your local Genomic Laboratory Hub (GLH).

• Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
• To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
• For investigation of possible hereditary pancreatitis, the appropriate indication to choose is:
  • R175 Pancreatitis: this is a gene panel test covering a small number of genes that are known to cause hereditary pancreatitis, including PRSS1, SPINK1, CFTR and CELA3A.
• The majority of genomic tests in adults are currently undertaken on a singleton basis, though samples may be needed from additional family members in order to interpret results.
• For tests such as R175, which do not include whole genome sequencing, you can use your local GLH test order and consent (record of discussion (RoD)) forms.
• The majority of tests are DNA-based, and an EDTA sample (typically a purple-topped tube) is required.
• Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

For clinicians

• NHS England: National Genomic Test Directory
• NICE: Pancreatitis (NG104)

References:

• Jalaly NY, Moran RA, Fargahi F and others. ‘An evaluation of factors associated with pathogenic PRSS1, SPINK1, CTFR, and/or CTRC genetic variants in patients with idiopathic pancreatitis’. The American Journal of Gastroenterology 2017: volume 112, issue 8, pages 1,320–1,329. DOI: 10.1038/ajg.2017.106
• Joergensen M, Brusgaard K, Crüger DG and others. ‘Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: A nationwide cohort study’. Digestive Diseases and Sciences 2010: volume 55, issue 10, pages 2,988–2,998. DOI: 10.1007/s10620-009-1118-4
• Rebours V, Boutron-Ruault MC, Schnee M and others. ‘The natural history of hereditary pancreatitis: A national series’. Gut 2009: volume 58, issue 1, pages 97–103. DOI: 10.1136/gut.2008.149179

For patients

• Guts UK: Kranky Panky Pancreatitis Awareness Campaign
• Pancreatic Society of Great Britain and Ireland
• Pancreatitis Supporters Network