Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient

Azathioprine, an analog of mercaptopurine, is used for various inflammatory/autoimmune diseases in diverse fields such as rheumatology, ophthalmology, gastroenterology, and neurology. One of the dreaded side effects of this drug is myelosuppression, which can be either dose related or “idiosyncratic...

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Main Authors: Debashish Mishra, Shefali Khanna Sharma, Aman Sharma, Sanjay Jain, Varun Dhir
Format: Article
Language:English
Published: SAGE Publishing 2019-01-01
Series:Indian Journal of Rheumatology
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Online Access:http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2019;volume=14;issue=1;spage=61;epage=64;aulast=Mishra
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author Debashish Mishra
Shefali Khanna Sharma
Aman Sharma
Sanjay Jain
Varun Dhir
author_facet Debashish Mishra
Shefali Khanna Sharma
Aman Sharma
Sanjay Jain
Varun Dhir
author_sort Debashish Mishra
collection DOAJ
description Azathioprine, an analog of mercaptopurine, is used for various inflammatory/autoimmune diseases in diverse fields such as rheumatology, ophthalmology, gastroenterology, and neurology. One of the dreaded side effects of this drug is myelosuppression, which can be either dose related or “idiosyncratic.” The latter group often manifests with sudden cytopenias and is often secondary to a genetic predisposition. Mutations in the genes thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 (NUDT15) have been identified to predispose to severe myelosuppression with azathioprine. An important clinical clue that can precede the onset of myelosuppression is alopecia. Here, we describe the case of a young lady treated with azathioprine, who developed alopecia (progressing to alopecia totalis), which was followed by severe cytopenia – both of which recovered on stopping the drug. On genetic analysis, she was found to be homozygous for mutation in NUDT15 (C415T) but was negative for mutation in TPMT. We review various other cases reporting alopecia as a marker of azathioprine-induced myelosuppression and the genetic mutations described.
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series Indian Journal of Rheumatology
spelling doaj-art-02bfd18120a44254baa77435d663e8d62025-01-03T01:45:19ZengSAGE PublishingIndian Journal of Rheumatology0973-36980973-37012019-01-01141616410.4103/injr.injr_127_18Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patientDebashish MishraShefali Khanna SharmaAman SharmaSanjay JainVarun DhirAzathioprine, an analog of mercaptopurine, is used for various inflammatory/autoimmune diseases in diverse fields such as rheumatology, ophthalmology, gastroenterology, and neurology. One of the dreaded side effects of this drug is myelosuppression, which can be either dose related or “idiosyncratic.” The latter group often manifests with sudden cytopenias and is often secondary to a genetic predisposition. Mutations in the genes thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 (NUDT15) have been identified to predispose to severe myelosuppression with azathioprine. An important clinical clue that can precede the onset of myelosuppression is alopecia. Here, we describe the case of a young lady treated with azathioprine, who developed alopecia (progressing to alopecia totalis), which was followed by severe cytopenia – both of which recovered on stopping the drug. On genetic analysis, she was found to be homozygous for mutation in NUDT15 (C415T) but was negative for mutation in TPMT. We review various other cases reporting alopecia as a marker of azathioprine-induced myelosuppression and the genetic mutations described.http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2019;volume=14;issue=1;spage=61;epage=64;aulast=MishraAlopeciaAzathioprinecytopeniamercaptopurinemyelosuppression
spellingShingle Debashish Mishra
Shefali Khanna Sharma
Aman Sharma
Sanjay Jain
Varun Dhir
Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
Indian Journal of Rheumatology
Alopecia
Azathioprine
cytopenia
mercaptopurine
myelosuppression
title Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
title_full Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
title_fullStr Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
title_full_unstemmed Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
title_short Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
title_sort alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient
topic Alopecia
Azathioprine
cytopenia
mercaptopurine
myelosuppression
url http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2019;volume=14;issue=1;spage=61;epage=64;aulast=Mishra
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AT sanjayjain alopeciaasthefirstmanifestationofazathioprinemyelosuppressioninageneticallypredisposedpatient
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