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Example clinical scenario

A 28-year-old woman with left-sided ulcerative colitis has had two disease flares requiring steroid therapy in the last year. During her most recent flare, one month ago, she was hospitalised and received a blood transfusion due to severe anaemia. She is being reviewed in clinic to commence azathioprine.

When to consider genomic testing

  • The British Society of Gastroenterology (BSG) recommends that all patients being considered for thiopurine therapy should have an assessment of their TPMT status.
  • Currently, genomic testing is not recommended for this, as serum TPMT is the most clinically useful assay.

What do you need to do?

  • Once TMPT status is assessed, the BSG recommends that thiopurines should be avoided in patients with low TPMT enzyme activity.
  • The dose of thiopurine should be reduced to 50% in those with intermediate thiopurine activity.
  • Daily dosage should also be reduced in patients with significant renal impairment.
  • Where a patient has previously had genomic testing for their TMPT status, for example through a clinical trial, please refer to Results: Patient with a known TPMT and/or NUDT15 genotype requiring thiopurines for non-malignant indications.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 28/02/2025
  • Next review due: 28/02/2026
  • Authors: Dr James Sun
  • Reviewers: Dr Kevin Monahan