Lung Transplantation for Familial Pulmonary Fibrosis

Purpose Up to 20% of idiopathic interstitial pneumonia (IIP) cases cluster in families, and familial pulmonary fibrosis (FPF) may require lung transplantation similar to sporadic idiopathic pulmonary fibrosis (IPF). However, transplant outcomes for FPF are not well characterized. We compared lung transplant for FPF versus IPF in a single center. Methods We identified all lung transplant recipients at UCLA between January 2006 and July 2017 with a UNOS lung diagnosis code of IIP: Idiopathic pulmonary fibrosis. After review of medical records and explant pathology, alternative diagnoses were excluded. Among the remaining cohort, we defined FPF as IIP with at least 1 reported first-degree relative with IIP, or those with a pathogenic variant identified on molecular genetic testing in a gene known to be associated with FPF. The remaining patients were considered IPF. The demographics, clinical parameters, and outcomes were compared between FPF and IPF groups. Results The final cohort included 288 patients, 37 (12.8%) FPF and 251 (87.2%) IPF. Demographic and baseline clinical parameters including laboratory tests were not significantly different between FPF and IPF groups. At 6-months post-transplant, FPF patients had lower WBC (4.1 vs. 5.1, p=0.02) and lower hemoglobin (11.5 vs 12.3, p=0.002). At 12-months, FPF patients had lower hemoglobin (11.5 vs 12.2, p=0.01). There was no significant difference in freedom from CLAD, CLAD free survival, or overall survival between FPF and IPF. Most FPF patients did not have genetic testing, but a subset of FPF patients with established short telomere syndrome (n=6) were more likely to develop severe neutropenia (50% vs 15.5%, p=0.02) and had worse survival (p=0.045) than patients transplanted for sporadic IPF. Conclusion Transplant for familial IPF has outcomes similar to sporadic IPF, but is associated with more cytopenia post-transplant. A subset of FPF with short telomere syndrome may have increased incidence of marrow failure and worse post-transplant survival than sporadic IPF. Up to 20% of idiopathic interstitial pneumonia (IIP) cases cluster in families, and familial pulmonary fibrosis (FPF) may require lung transplantation similar to sporadic idiopathic pulmonary fibrosis (IPF). However, transplant outcomes for FPF are not well characterized. We compared lung transplant for FPF versus IPF in a single center. We identified all lung transplant recipients at UCLA between January 2006 and July 2017 with a UNOS lung diagnosis code of IIP: Idiopathic pulmonary fibrosis. After review of medical records and explant pathology, alternative diagnoses were excluded. Among the remaining cohort, we defined FPF as IIP with at least 1 reported first-degree relative with IIP, or those with a pathogenic variant identified on molecular genetic testing in a gene known to be associated with FPF. The remaining patients were considered IPF. The demographics, clinical parameters, and outcomes were compared between FPF and IPF groups. The final cohort included 288 patients, 37 (12.8%) FPF and 251 (87.2%) IPF. Demographic and baseline clinical parameters including laboratory tests were not significantly different between FPF and IPF groups. At 6-months post-transplant, FPF patients had lower WBC (4.1 vs. 5.1, p=0.02) and lower hemoglobin (11.5 vs 12.3, p=0.002). At 12-months, FPF patients had lower hemoglobin (11.5 vs 12.2, p=0.01). There was no significant difference in freedom from CLAD, CLAD free survival, or overall survival between FPF and IPF. Most FPF patients did not have genetic testing, but a subset of FPF patients with established short telomere syndrome (n=6) were more likely to develop severe neutropenia (50% vs 15.5%, p=0.02) and had worse survival (p=0.045) than patients transplanted for sporadic IPF. Transplant for familial IPF has outcomes similar to sporadic IPF, but is associated with more cytopenia post-transplant. A subset of FPF with short telomere syndrome may have increased incidence of marrow failure and worse post-transplant survival than sporadic IPF.