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 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.

• Authors: Daniel C Chambers, Viviana P Lutzky, Simon H Apte, David Godbolt, John Feenstra, John Mackintosh
• Journal: Respirology case reports (Respirol Case Rep) Vol. 8 Issue 6 Pg. e00607 (Aug 2020) ISSN: 2051-3380 [Print] United States
• PMID: 32607243 (Publication Type: Case Reports)
• Copyright: © 2020 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology.