Alopecia and colon ulcers following azathioprine use in a patient with myasthenia gravis: A case report.

ABSTRACT:

Rationale

Azathioprine is a purine analog (PA) used to treat myasthenia gravis (MG). However, some patients are sensitive to azathioprine and develop severe side effects, such as leukopenia, alopecia, and diarrhea soon after using the medication. Pharmacogenetics plays a crucial role in such intolerance.

Patient concerns

A 16-year-old woman with MG developed hair loss, pancytopenia, bloody diarrhea, and fever shortly after azathioprine treatment.

Diagnosis

Pharmacogenetic analysis revealed compound heterozygosity of the nudix hydrolase 15 (NUDT15) gene, which led to suppressed NUDT15 function. Colonoscopy revealed large ulcers with polypoid lesions in the terminal ileum, cecum, ascending colon, and rectum. These are the characteristics of inflammatory bowel disease (I

SUBMITTER: Hsu WY 

PROVIDER: S-EPMC9388021 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature