Extrapulmonary manifestations of telomere syndrome tied to shorter survival in IPF

Patients with idiopathic pulmonary fibrosis (IPF) who have extrapulmonary manifestations of a telomere syndrome show a decreased survival, according to a recent study.

“Patients with mutations in telomere-related genes exhibit extrapulmonary signs and symptoms,” the authors said. “These patients represent a distinct phenotype of IPF with worse survival.”

A retrospective analysis was conducted in 409 patients with IPF. Clinical characteristics, laboratory results, and family history indicative of a telomere syndrome were assessed in relation to leukocyte telomere length measured by quantitative polymerase chain reaction and patient outcomes.

Overall, 293 patients with sporadic IPF and 116 with a background of familial pulmonary fibrosis were included in the analysis.

Of the IPF patients, 27 percent presented with any or a combination of a clinical history (haematological disease, liver disease, early greying of hair, nail dystrophy, skin abnormalities), a family history, or haematological laboratory abnormalities (macrocytosis, anaemia, thrombopenia, or leukopenia) suggestive of a telomere syndrome, which correlated with shorter leukocyte telomere length and shorter survival in a multivariate model (p=0.002).

On the other hand, the presence of either a clinical history, a family history, or haematological laboratory abnormalities did not significantly correlate with lower survival (p=0.07).

“Taking a careful clinical and family history focused on extrapulmonary manifestations of a telomere syndrome can provide important prognostic information in patients with IPF, as this is associated with shorter survival,” the authors said.

“IPF is a heterogenous disease with a median survival of 3–4 years,” they noted.