Multiple Solid Organ Transplantation in Telomeropathy: Case Series and Literature Review

Transplantation. 2018 Oct;102(10):1747-1755. doi: 10.1097/TP.0000000000002198.

Abstract

Background: Solid organ transplantation is a valid treatment option for selected patients with organ failure due to an underlying telomeropathy; however, the feasibility of multiple-organ transplantation if several organs are compromised is unclear.

Methods: We describe 2 patients with telomeropathy due to heterozygous telomerase RNA component or telomerase reverse transcriptase mutation, who successfully underwent serial or combined liver and lung transplantation for concurrent liver fibrosis/cirrhosis and pulmonary fibrosis.

Results: Despite a challenging posttransplant course, long-term outcomes were favorable, with both patients doing fine now, respectively, 12/20 and 24 months after multiple-organ transplantation.

Conclusions: To our knowledge, this is the first report of multiple solid organ transplantation in documented telomeropathy. These cases highlight current difficulties of timely diagnosis, therapeutic approach, and postoperative complications in telomeropathy patients in whom several organs are affected.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Humans
  • Liver / diagnostic imaging
  • Liver Cirrhosis / blood
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / genetics
  • Liver Cirrhosis / surgery
  • Liver Function Tests
  • Lung / diagnostic imaging
  • Male
  • Middle Aged
  • Multiple Organ Failure / blood
  • Multiple Organ Failure / genetics
  • Multiple Organ Failure / surgery*
  • Organ Transplantation / adverse effects
  • Organ Transplantation / methods*
  • Postoperative Complications / epidemiology
  • Postoperative Complications / etiology
  • Pulmonary Fibrosis / blood
  • Pulmonary Fibrosis / diagnosis
  • Pulmonary Fibrosis / genetics
  • Pulmonary Fibrosis / surgery
  • RNA / genetics
  • Respiratory Function Tests
  • Telomerase / genetics
  • Telomere Homeostasis / genetics*
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • telomerase RNA
  • RNA
  • Telomerase