| Summary: | Chronic inflammatory bowel disease (IBD) includes Crohn’s disease and ulcerative colitis. Both are characterized by inflammation of part of the digestive tract lining. Azathioprine (AZA) is a well-known immunosuppressant that has been known for many years for its ability to provide long-term disease remission in IBDs, but has important side effects, most of which are related to a single nucleotide polymorphism in the gene for thiopurine methyltransferase (TPMT), which ensures the degradation and efficacy of AZA. Since a direct correlation between <i>TPMT</i> gene polymorphisms and the haematological toxicity of the AZA treatment has been widely demonstrated, <i>TPMT</i> genotyping has been made necessary prior to any introduction of AZA. The monitoring of thiopurine metabolites presents one of the factors that limit wide adaptation of these thiopurines in clinical practice. Thus, identifying patients with asymmetric metabolism could help clinicians provide an ideal treatment recommendation to improve response and reduce adverse effects. Here, we review the role of AZA in the treatment of IBD and discuss the usefulness of <i>TPMT</i> genotyping to guide clinical decision-making. In addition, we report the identification of a new molecular alteration, never described, <i>TPMT</i> mutation affecting the TPMT activity and responsible for deleterious side effects in a clinical case of a 20-year-old woman patient.
|
|---|
