Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 (PFBMFT1)

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 (PFBMFT1)

OMIM number: 614742

Comments closing date: 30/06/2025

This condition has a highly variable set of
symptoms which are due to shortening of
telomeres, the region at the end of chromosomes
which usually reduce in length as a cell divides.
Telomerase, the gene which is modified in this
condition, is an enzyme that usually repairs the
telomere to avoid shortening from happening. The
most severe effect is Dyskeratosis congenita in
early childhood, a change cells that leads to bone
marrow failure, malignancies and pulmonary and
liver fibrosis. The milder, but still severe symptom
of the condition is pulmonary fibrosis, presenting in
adulthood. This scarring and thickening of the
tissue in the lungs makes it difficult for oxygen to
enter the bloodstream, leading to shortness of
breath, chronic dry cough, fatigue, weight loss and
chest pain. Pulmonary fibrosis itself is progressive
and incurable with a life expectancy of less than 5
years when diagnosed. Other manifestation of the
disease can include bone marrow failure (leading
to aplastic anemia), liver disease, hepatic fibrosis
and increased risk of certain cancers.

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