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Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
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Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
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Journal Article
Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
2020
Overview
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. Genomic contributors to the pathogenesis of interstitial lung disease are increasingly recognized. This case report describes dramatic clinical response to a combination of immunosuppression and danazol in a patient with non‐specific interstitial pneumonia associated with very short telomeres.
Publisher
John Wiley & Sons, Ltd,John Wiley & Sons, Inc,Wiley
Subject
