Table 5.

Treatment of Manifestations in Individuals with Predisposition to Pulmonary Fibrosis

Manifestation/ConcernTreatmentConsiderations/Other
Idiopathic PF Antifibrotic medications 1
(nintedanib, 2 pirfenidone 3)		Monitoring of side effects
Progressive PF Nintedanib 4
Unclassifiable
progressive PF 		Pirfenidone 5
Any progressive PF Consideration of lung transplantation:
  • In persons w/primarily lung limitations & few manifestations of other organ failure
  • Often an option because most persons w/hereditary PF are age <70 yrs
In persons w/short telomere:
  • Adjustment of immunosuppressive medication may be required to avoid drug toxicities in those w/hematologic abnormalities. 6
  • Subclinical bone marrow abnormalities may affect immunosuppression at time of lung transplantation. 7
  • Cytomegalovirus-related morbidity after lung transplantation has been reported. 8
OxygenMay improve exercise tolerance & prevent or delay onset of pulmonary hypertension & right heart failure
Treatment of comorbid conditionsEval (as clinically indicated) & treatment of pulmonary embolism, lung cancer, pulmonary hypertension, GERD, obstructive sleep apnea
Pulmonary rehabMay improve exercise tolerance
Short telomere
syndrome 		See Dyskeratosis Congenita and Related Telomere Biology Disorders, Treatment of Manifestations.

GERD = gastroesophageal reflux disease; PF = pulmonary fibrosis

1.

Treatment with antifibrotic medications (e.g., nintedanib, pirfenidone), was associated with an improved trajectory in lung function (i.e., less forced vital capacity decline) in individuals with short telomere-related pathogenic variants. A European study did not find a difference between the two medications in terms of efficacy [Justet et al 2021]. A US study found that individuals taking pirfenidone had less lung function decline, regardless of the degree of telomere shortening [Dressen et al 2018].

2.
3.
4.
5.
6.
7.
8.

From: Pulmonary Fibrosis Predisposition Overview

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