Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis

Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis

In this study the prognostic value of the current screening parameters for familial pulmonary fibrosis (FPF) will be investigated by looking at the screenings of 200 first-degree relatives of patients with FPF.

Also insight in the natural history of early FPF, and the necessary interval between screenings visits will be investigated.

Familial pulmonary fibrosis (FPF) is a fatal lung disease that is often not diagnosed until a significant portion of the lung function is lost. Median survival after diagnosis is 3 to 5 years. As treatment can only slow down lung function decline, early disease detection is essential to provide timely therapeutic support. As first-degree relatives of patients with FPF are at high risk of developing pulmonary fibrosis as well, a screening protocol has been put in place. However, the value of current screening parameters to detect early asymptomatic disease as well as the optimal interval between screening appointments are unknown. A prospective study into the prognostic value of these screening markers in the target population and the appropriate clinical setting is needed to develop an evidence-based screening protocol. There will be an emphasis on easily operable parameters that may allow for redirection of (part of the) screening activities to the general practice in the future.

Inclusion Criteria:

• Asymptomatic first-degree relative of patients with familial pulmonary fibrosis (FPF)

Exclusion Criteria:

• A previous diagnosis of interstitial lung disease (ILD)
• Minors (aged <18 years)
• Pregnant

Note: woman who are pregnant at the start of the study or at the time of the HRCT are not allowed to participate. If a participant gets pregnant at a later stage during the study, she will not be excluded from the study. To be able to account for a potential effect of pregnancy during data analysis, female participants can be asked if they are pregnant at every visit.