Open AccessSuccessful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
Author(s) -
Chambers Daniel C.,
Lutzky Viviana P.,
Apte Simon H.,
Godbolt David,
Feenstra John,
Mackintosh John
Publication year - 2020
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.607
Subject(s) - medicine , danazol , hepatosplenomegaly , respiratory failure , immunosuppression , prednisolone , interstitial lung disease , lung , gastroenterology , surgery , disease , endometriosis
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.