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Patients with thiopurine methyl transferase (TPMT) deficiency, which in its heterozygous form affects about 10% of the population, are at increased risk for leukopenia when taking thiopurines for treatment of inflammatory bowel disease (IBD).
In a randomized, controlled trial involving 796 eligible patients, the intervention group received TPMT genotype testing prior to thiopurine initiation and a 50% reduction in the standard dose for heterozygous deficiency and a 90% to 100% dose reduction for homozygous deficiency. The control group received standard doses. All patients were monitored for leukopenia (white blood cell count <3000 cells/µL). The overall risk for leukopenia was similar in the intervention and control groups at 7.4% and 7.9%,…