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

Respirol Case Rep. 2020 Jun 25;8(6):e00607. doi: 10.1002/rcr2.607. eCollection 2020 Aug.

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.

Keywords: Danazol; interstitial lung disease; non‐specific interstitial pneumonia; telomere.

Publication types

  • Case Reports