Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Predisposition to Pulmonary Fibrosis

System/ConcernEvaluationComment
Pulmonary
fibrosis
  • Clinical history & exam for comorbidities
  • Chest radiograph
  • HRCT scan of chest
  • Pulmonary function studies
  • Eval by pulmonologist, preferably one w/experience in PF
Comorbidities that may affect disease course (e.g., pulmonary hypertension, obstructive sleep apnea, emphysema, GERD, & obesity)
Dyskeratosis
congenita 1 		See Dyskeratosis Congenita and Related Telomere Biology Disorders, Evaluations Following Initial Diagnosis.
Genetic
counseling 		By genetics professionals 2To inform affected persons & families re nature, MOI, & implications of FPF to facilitate medical & personal decision making

FPF = familial pulmonary fibrosis; GERD = gastroesophageal reflux disease; HRCT = high-resolution computed tomography; MOI = mode of inheritance; PF = pulmonary fibrosis

1.

Most often associated with pathogenic variants in TERC or TERT

2.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse.

From: Pulmonary Fibrosis Predisposition Overview

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