Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF)

Abstract

Background The aim of this study was to analyze the relative frequency, clinical characteristics, disease onset and progression in f-IPF vs. sporadic IPF (s-IPF). Methods Familial IPF index patients and their family members were recruited into the European IPF registry/biobank (eurIPFreg) at the Universities of Giessen and Marburg (UGMLC). Initially, we employed wide range criteria of f-IPF (e.g. relatives who presumably died of some kind of parenchymal lung disease). After narrowing down the search to occurrence of idiopathic interstitial pneumonia (IIP) in at least one first grade relative, 28 index patients were finally identified, prospectively interviewed and examined. Their family members were phenotyped with establishment of pedigree charts. Results Within the 28 IPF families, overall 79 patients with f-IPF were identified. In the same observation period, 286 f-IIP and s-IIP patients were recruited into the eurIPFreg at our UGMLC sites, corresponding to a familial versus s-IPF of 9.8%. The both groups showed no difference in demographics (61 vs. 79% males), smoking history, and exposure to any environmental triggers known to cause lung fibrosis. The f-IPF group differed by an earlier age at the onset of the disease (55.4 vs. 63.2 years; p < 0.001). On average, the f-IPF patients presented a significantly milder extent of functional impairment at the time point of inclusion vs. the s-IPF group (FVC 75% pred. vs. FVC 62% pred., p = 0.011). In contrast, the decline in FVC was found to be faster in the f-IPF vs. the s-IPF group (4.94% decline in 6 months in f-IPF vs. 2.48% in s-IPF, p = 0.12). The average age of death in f-IPF group was 67 years vs. 71.8 years in s-IPF group ( p = 0.059). The f-IIP group displayed diverse inheritance patterns, mostly autosomal-dominant with variable penetrance. In the f-IPF, the younger generations showed a tendency for earlier manifestation of IPF vs. the older generation (58 vs. 66 years, p = 0.013). Conclusions The 28 f-IPF index patients presented an earlier onset and more aggressive natural course of the disease. The disease seems to affect consecutive generations at a younger age. Trial registration Nr. NCT02951416 http://www.www.clinicaltrials.gov

Assessing the Effectiveness of Pirfenidone in Idiopathic Pulmonary Fibrosis: Long-Term, Real-World Data from European IPF Registry (eurIPFreg)

“…Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, and usually fatal fibrotic pulmonary disease with rising incidence, being associated with an economic healthcare burden [ 1 ]. The natural history of this disease is characterized by a decline in lung function, worsening of symptoms and health-related quality of life, as well as early mortality, especially in familial cases [ 2 , 3 ].…”

Exploring the Ability of Electronic Nose Technology to Recognize Interstitial Lung Diseases (ILD) by Non-Invasive Breath Screening of Exhaled Volatile Compounds (VOC): A Pilot Study from the European IPF Registry (eurIPFreg) and Biobank

“…Globally, the incidence of ILD and especially that of Idiopathic Pulmonary Fibrosis (IPF) is rising, which is associated with an economic healthcare burden [2]. The natural history of progressive ILD is characterized by a decline in lung function, worsening of symptoms and health-related quality of life, and early mortality, especially in familial forms [3,4]. Greater impairment in forced vital capacity (FVC) or diffusion capacity of the lungs for carbon monoxide (DLco), and a greater extent of fibrotic changes on a highly resoluted computed tomography scan (HRCT), are predictors of mortality in ILD patients [5,6].…”

Family History of Pulmonary Fibrosis Predicts Worse Survival in Patients With Interstitial Lung Disease

“…Although the natural history of FPF subsets harboring a causative telomererelated gene mutation has been characterized, results of studies assessing disease course among the broader groups of patients endorsing a family history have been mixed. 22,23 In this investigation, we sought to determine whether patients with a self-reported family history of ILD display a unique phenotype regarding clinical characteristics and longitudinal outcomes. We hypothesized that self-reported family history of ILD would predict worse survival in patients with IPF, CTD-associated ILD, CHP, and unclassifiable ILD (uILD) when compared with their counterparts with sporadic disease.…”