Familial Idiopathic Pulmonary Fibrosis

Lee, Hong Lyeol; Ryu, Jay H.; Wittmer, Michael H.; Hartman, Thomas E.; Lymp, James; Tazelaar, Henry D.; Limper, Andrew H.

doi:10.1378/chest.127.6.2034

Cited by 151 publications

(117 citation statements)

References 23 publications

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“…Subjects with asymptomatic ILD (mean age, 46 6 2.1 yr) were significantly younger than those with known familial IPF (mean age, 67 6 2.7 yr) and significantly older than those with normal HRCT scans (mean age, 35 6 1.7 yr) (P , 0.001 and P , 0.001, respectively). The mean age of the familial IPF group was consistent with prior reports (17). No significant differences in age or smoking history were found in subjects with nonspecific HRCT findings when compared with subjects with normal HRCT scans.…”

Section: Hrct Screening Detects Early Ild In Asymptomatic Relativessupporting

confidence: 89%

“…We chose to study families affected with pulmonary fibrosis because of the high prevalence of IPF within these kindreds and the remarkable similarities in presentations, clinical outcomes, and gene expression patterns of familial and sporadic IPF (10,(17)(18)(19)(20). We found radiographic evidence of ILD in 22% of asymptomatic subjects screened with HRCT scan.…”

Section: Discussionmentioning

confidence: 99%

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Early Interstitial Lung Disease in Familial Pulmonary Fibrosis

Rosas¹,

Ren²,

Avila³

et al. 2007

Am J Respir Crit Care Med

154

158

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Rationale: Identification of early, asymptomatic interstitial lung disease (ILD) in populations at risk of developing idiopathic pulmonary fibrosis (IPF) may improve the understanding of the natural history of IPF. Objectives: To determine clinical, radiographic, physiologic, and pathologic features of asymptomatic ILD in family members of patients with familial IPF. Methods: One hundred sixty-four subjects from 18 kindreds affected with familial IPF were evaluated for ILD. Bronchoalveolar lavage fluid cells were analyzed using flow cytometry. Lung biopsies were performed in six subjects with asymptomatic ILD. Measurements and Main Results: High-resolution computed tomography abnormalities suggesting ILD were identified in 31 (22%) of 143 asymptomatic subjects. Subjects with asymptomatic ILD were significantly younger than subjects with known familial IPF (P , 0.001) and significantly older than related subjects without lung disease (P , 0.001). A history of smoking was identified in 45% of subjects with asymptomatic ILD and in 67% of subjects with familial IPF; these percentages were significantly higher than that of related subjects without lung disease (23%) (P 5 0.02 and P , 0.001, respectively). Percentages of activated CD4 1 lymphocytes were significantly higher in bronchoalveolar lavage fluid cells from subjects with asymptomatic ILD compared with related subjects without lung disease (P , 0.001). Lung biopsies performed in subjects with asymptomatic ILD revealed diverse histologic subtypes. Conclusions: Asymptomatic ILD in individuals at risk of developing familial IPF can be identified using high-resolution computed tomography scan of the chest, especially in those with a history of smoking. Lung biopsies from individuals in this cohort with early asymptomatic lung disease demonstrate various histologic subtypes of ILD.

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Section: Hrct Screening Detects Early Ild In Asymptomatic Relativessupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Early Interstitial Lung Disease in Familial Pulmonary Fibrosis

Rosas¹,

Ren²,

Avila³

et al. 2007

Am J Respir Crit Care Med

154

158

View full text Add to dashboard Cite

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“…13 The most commonly described genetic predisposition in diffuse lung disease is for a familial form of IPF. [14][15][16][17] The occurrence of IPF in large family kindreds as well as in twins 18 adds further support for a yet-to-be identified genetic predisposition to chronic, particularly fibrosing, interstitial lung disease. Nevertheless, recent evidence suggests considerable pathologic diversity in F-IIP.…”

mentioning

confidence: 99%

“…Similar increased risk of disease was identified in sporadic cases of idiopathic pulmonary fibrosis with the MUC5B SNP. 14 Despite studies emphasizing considerable heterogeneity of disease in F-IIP, many investigators still hold on to the concept that the histopathology of F-IIP is indistinguishable from that seen in idiopathic pulmonary fibrosis. 14,17,20 No rigorous study has yet focused on the specific pathologic attributes of F-IIP, using predefined pathologic criteria and independent slide review by more than 1 pathologist.…”

mentioning

confidence: 99%

“…14 Despite studies emphasizing considerable heterogeneity of disease in F-IIP, many investigators still hold on to the concept that the histopathology of F-IIP is indistinguishable from that seen in idiopathic pulmonary fibrosis. 14,17,20 No rigorous study has yet focused on the specific pathologic attributes of F-IIP, using predefined pathologic criteria and independent slide review by more than 1 pathologist. In our study, 3 experienced pulmonary pathologists evaluated lung tissue samples from 30 subjects with F-IIP for the presence, distribution, and severity of individual histopathologic features and then rendered an overall diagnostic impression dichotomized first between usual interstitial pneumonia (UIP) or ''not UIP.…”

mentioning

confidence: 99%

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Familial Idiopathic Interstitial Pneumonia: Histopathology and Survival in 30 Patients

Leslie¹,

Sporn²,

Curran‐Everett³

et al. 2012

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Familial idiopathic interstitial pneumonia (F-IIP) describes the unexplained occurrence of diffuse parenchymal lung disease in related individuals. Prevailing wisdom suggests that the histopathology of F-IIP is indistinguishable from that of idiopathic pulmonary fibrosis, namely, usual interstitial pneumonia (UIP). Objective.—To define the histopathology of F-IIP in lung tissue samples. Design.—Tissue sections from 30 patients with F-IIP, enrolled in a national research program, were evaluated by 3 pulmonary pathologists using 15 predefined histopathologic features. Each feature was recorded independently before a final diagnosis was chosen from a limited list dichotomized between UIP or “not UIP.” These 2 groups were then compared to survival. Results.—The consensus diagnosis for the F-IIP cohort was an unclassifiable parenchymal fibrosis (60%), with a high incidence of histopathologic honeycombing, fibroblast foci, and smooth muscle in fibrosis. Usual interstitial pneumonia, strictly defined, was identified in less than half of the F-IIP cases (range, 23%–50%). Interobserver agreement was fair (κ = 0.37) for 2 observers for the overall diagnosis of UIP. Findings unexpected in UIP were prevalent. The survival for the entire F-IIP cohort was poor, with an estimated mortality of 93% and a median age at death of 60.9 years. Subjects with UIP had a shorter survival and younger age at death. Conclusions.—Pulmonary fibrosis was the dominant histopathology identified in our patients, but diagnostic features of UIP were seen in less than 50% of the samples. Overall survival was poor, with mortality accelerated apparently by the presence of a UIP pattern of disease.

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