Multidisciplinary Approach to Familial Pulmonary Fibrosis

Familial pulmonary fibrosis (FPF) represents a subset of patients with interstitial lung disease that can be a diagnostic dilemma for the clinician and radiologist. Diagnosis can be challenging, as the age at presentation and penetrance can vary even among family members. In fact, many of these diseases have been only recently discovered with improved gene sequencing. In addition, imaging patterns are often unclassifiable, and there can be a wide range of extrapulmonary symptoms such as bone marrow and liver failure, which can further obscure the diagnosis. Given that these patients have an overall worse prognosis than that of sporadic cohorts, accurate and early diagnosis is pivotal. The authors review the general concepts of FPF and highlight the known key mutations implicated in FPF, including those that cause abnormal surfactant function, premature shortening of telomeres, and other specific genetic syndromes such as dyskeratosis congenita, Hermansky-Pudlak syndrome, and coatomer-associated protein α syndrome. The clinical presentations and imaging findings are also highlighted. The authors raise awareness of FPF among radiologists who may encounter this entity when interpreting imaging or participating in multidisciplinary conferences. ^©RSNA, 2025 Supplemental material is available for this article.