Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol

Abstract We report the case of a 42‐year‐old female with a history of finger clubbing which improved during pregnancy, a history of unexplained hepatosplenomegaly, and subsequent non‐specific interstitial pneumonia with respiratory failure. Given a personal and family history of early greying of the...

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Bibliographic Details
Main Authors: Daniel C. Chambers, Viviana P. Lutzky, Simon H. Apte, David Godbolt, John Feenstra, John Mackintosh
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Respirology Case Reports
Subjects:
Online Access:https://doi.org/10.1002/rcr2.607
Description
Summary:Abstract We report the case of a 42‐year‐old female with a history of finger clubbing which improved during pregnancy, a history of unexplained hepatosplenomegaly, and subsequent non‐specific interstitial pneumonia with respiratory failure. Given a personal and family history of early greying of the hair, the peripheral blood monocyte telomere length was measured and was confirmed to be <1st centile, explaining the multiorgan presentation. She was treated with prednisolone, mycophenolate mofetil, and the synthetic androgen danazol with a dramatic improvement in respiratory failure and lung function. After 18 months of danazol treatment, the peripheral blood monocyte telomere length had returned to the normal range.
ISSN:2051-3380