Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report

    August 2021 in “ Clinical Case Reports ”
    Yu Takeuchi, Hidenao Noritake, Masako Matsumoto, Masahiro Umemura, M. Yamashita, Kensuke Kitsugi, Shingo Takatori, Kazuyoshi Ohta, Jun Ito, Shin Shimoyama, Akira Kaysuya, Chiaki Maruyama, Kazuki Fukuchi, Satoshi Dohtan, Hiroe Sakata, Kazuhito Kawata
    TLDR Genetic testing is crucial before giving azathioprine to avoid severe side effects.
    A 65-year-old woman with autoimmune hepatitis experienced severe myelosuppression, massive hair loss, and painful oral ulcers after starting azathioprine treatment. Genetic testing revealed a homozygous variant of the NUDT15 gene, which predicts azathioprine toxicity. The adverse reactions required hospitalization, discontinuation of azathioprine, and treatment with granulocyte colony-stimulating factor and antibiotics. This case underscored the importance of early recognition of symptoms and genetic testing for NUDT15 variants to prevent severe side effects in patients undergoing thiopurine therapy.
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