Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

Neelam Giri, Rees Lee, Albert Faro, Charles B. Huddleston, Frances V. White, Blanche P. Alter, Sharon A. Savage

Research output: Contribution to journalArticle

Abstract

Background: Dyskeratosis congenita (DC) is a progressive, multi-system, inherited disorder of telomere biology with high risks of morbidity and mortality from bone marrow failure, hematologic malignancy, solid tumors and pulmonary fibrosis. Hematopoietic stem cell transplantation (HSCT) can cure the bone marrow failure, but it does not eliminate the risks of other complications, for which life-long surveillance is required. Pulmonary fibrosis is a progressive and lethal complication of DC.Case presentation: In this report, we describe a patient with DC who developed pulmonary fibrosis seven years after HSCT for severe aplastic anemia, and was successfully treated with bilateral lung transplantation. We also performed a systematic literature review to understand the burden of pulmonary disease in patients with DC who did or did not receive an HSCT. Including our patient, we identified 49 DC patients with pulmonary disease (12 after HSCT and 37 without HSCT), and 509 with no reported pulmonary complications.Conclusion: Our current case and literature review indicate that pulmonary morbidity is one of the major contributors to poor quality of life and reduced long-term survival in DC. We suggest that lung transplantation be considered for patients with DC who develop pulmonary fibrosis with no concurrent evidence of multi-organ failure.

Original languageEnglish (US)
Article number3
JournalBMC Blood Disorders
Volume11
DOIs
StatePublished - Jun 15 2011
Externally publishedYes

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Dyskeratosis Congenita
Lung Transplantation
Pulmonary Fibrosis
Hematopoietic Stem Cell Transplantation
Lung Diseases
Bone Marrow
Morbidity
Lung
Aplastic Anemia
Telomere
Hematologic Neoplasms
Quality of Life
Survival
Mortality

ASJC Scopus subject areas

  • Hematology
  • Molecular Biology

Cite this

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita : Case Report and systematic literature review. / Giri, Neelam; Lee, Rees; Faro, Albert; Huddleston, Charles B.; White, Frances V.; Alter, Blanche P.; Savage, Sharon A.

In: BMC Blood Disorders, Vol. 11, 3, 15.06.2011.

Research output: Contribution to journalArticle

Giri, Neelam ; Lee, Rees ; Faro, Albert ; Huddleston, Charles B. ; White, Frances V. ; Alter, Blanche P. ; Savage, Sharon A. / Lung transplantation for pulmonary fibrosis in dyskeratosis congenita : Case Report and systematic literature review. In: BMC Blood Disorders. 2011 ; Vol. 11.
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