Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.
Lung transplantation is the only intervention that prolongs survival in idiopathic pulmonary fibrosis (IPF). Telomerase mutations are the most common identifiable genetic cause of IPF, and at times, the telomere defect manifests in extrapulmonary disease such as bone marrow failure. The relevance of this genetic diagnosis for lung transplant management has not been examined. We gathered an international series of telomerase mutation carriers who underwent lung transplant in the U.S.A., Australia and Sweden. The median age at transplant was 52 years. Seven recipients are alive with a median follow-up of 1.9 years (range 6 months to 9 years); one died at 10 months. The most common complications were haematological, with recipients requiring platelet transfusion support (88%) and adjustment of immunosuppressives (100%). Four recipients (50%) required dialysis for tubular injury and calcineurin inhibitor toxicity. These complications occurred at significantly higher rates relative to historic series (p<0.0001). Our observations support the feasibility of lung transplantation in telomerase mutation carriers; however, severe post-transplant complications reflecting the syndromic nature of their disease appear to occur at higher rates. While these findings need to be expanded to other cohorts, caution should be exercised when approaching the transplant evaluation and management of this subset of pulmonary fibrosis patients.
Dept of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Leann L
LL
Silhan
Dept of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Pali D
PD
Shah
Dept of Medicine, The Prince Charles Hospital, Brisbane, Australia The University of Queensland, Queensland Lung Transplant Service, The Prince Charles Hospital Brisbane, Australia.
Daniel C
DC
Chambers
Dept of Medicine, Duke University School of Medicine, Durham, NC, USA.
Laurie D
LD
Snyder
Sahlgrenska University Hospital, Gothenburg, Sweden.
Gerdt C
GC
Riise
Dept of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Christa L
CL
Wagner
Dept of Medicine, Karolinska Institute, Huddinge, Sweden.
Eva
E
Hellström-Lindberg
Dept of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jonathan B
JB
Orens
The Prince Charles Hospital Renal Services, Brisbane, Australia.
Juliette F
JF
Mewton
Dept of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sonye K
SK
Danoff
Dept of Medicine, Duke University School of Medicine, Durham, NC, USA.
Murat O
MO
Arcasoy
Dept of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA marmani1@jhmi.edu.
Mary
M
Armanios
D000328:Adult; D001315:Australia; D015331:Cohort Studies; D005260:Female; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000235:genetics* / Q000628:therapy*; D016040:Lung Transplantation; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011183:Postoperative Complications; D051437:Renal Insufficiency; D013548:Sweden; D019098:Telomerase / Q000235:genetics*; D016896:Treatment Outcome; D014481:United States
D019098:Telomerase