Literature DB >> 15947317

Familial idiopathic pulmonary fibrosis: clinical features and outcome.

Hong-Lyeol Lee1, Jay H Ryu, Michael H Wittmer, Thomas E Hartman, James F Lymp, Henry D Tazelaar, Andrew H Limper.   

Abstract

STUDY
OBJECTIVES: Familial idiopathic pulmonary fibrosis (FIPF) has been defined as idiopathic pulmonary fibrosis (IPF) occurring in two or more members of a family. The clinical course of FIPF has not been fully defined. Accordingly, the current study was undertaken to establish clinical, radiologic, and histologic features, and survival in a consecutive series of patients with FIPF.
DESIGN: Retrospective analysis of clinical, radiologic, and pathologic data from a consecutive series of patients with FIPF who were seen at Mayo Medical Center. Survival in patients with FIPF was contrasted to that of previously characterized patients with nonfamilial IPF who were evaluated at our institution.
SETTING: Tertiary referral medical center. PATIENTS: We screened 47 patients and family members with FIPF from 15 families who were identified between the years 1992 and 2002. We further analyzed the subgroup of FIPF patients that was composed of 27 patients from 15 families in whom the complete clinical course was monitored at our institution. MEASUREMENTS: All patients exhibited clinical features that were compatible with IPF and either compatible high-resolution CT (HRCT) scan findings or histologic evidence of usual interstitial pneumonia. Clinical data, including symptoms, physical findings, HRCT scan findings, lung function test results, biopsy results, and survival were abstracted from the clinical records.
RESULTS: Compared to patients with nonfamilial IPF, patients with FIPF did not demonstrate any notable differences in clinical, radiologic, or pathologic features. We observed that the total number of affected members in a family with FIPF was a significant risk factor for earlier mortality (p = 0.0157; hazard ratio, 1.434). Overall, however, patients with FIPF had a statistically similar outcome to those patients with nonfamilial IPF.
CONCLUSIONS: Although uncommon, FIPF represents a distinct syndrome, which has clinical features and patient survival rates that are similar to those of nonfamilial IPF.

Entities:  

Mesh:

Year:  2005        PMID: 15947317     DOI: 10.1378/chest.127.6.2034

Source DB:  PubMed          Journal:  Chest        ISSN: 0012-3692            Impact factor:   9.410


  36 in total

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2.  Clinical and pathologic features of familial interstitial pneumonia.

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3.  ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.

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Review 4.  Genetic predisposition to respiratory diseases: infiltrative lung diseases.

Authors:  Mark P Steele; Kevin K Brown
Journal:  Respiration       Date:  2007       Impact factor: 3.580

Review 5.  Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways.

Authors:  Christopher M Evans; Tasha E Fingerlin; Marvin I Schwarz; David Lynch; Jonathan Kurche; Laura Warg; Ivana V Yang; David A Schwartz
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6.  MUC5B variant is associated with visually and quantitatively detected preclinical pulmonary fibrosis.

Authors:  Susan K Mathai; Stephen Humphries; Jonathan A Kropski; Timothy S Blackwell; Julia Powers; Avram D Walts; Cheryl Markin; Julia Woodward; Jonathan H Chung; Kevin K Brown; Mark P Steele; James E Loyd; Marvin I Schwarz; Tasha Fingerlin; Ivana V Yang; David A Lynch; David A Schwartz
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7.  An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management.

Authors:  Ganesh Raghu; Harold R Collard; Jim J Egan; Fernando J Martinez; Juergen Behr; Kevin K Brown; Thomas V Colby; Jean-François Cordier; Kevin R Flaherty; Joseph A Lasky; David A Lynch; Jay H Ryu; Jeffrey J Swigris; Athol U Wells; Julio Ancochea; Demosthenes Bouros; Carlos Carvalho; Ulrich Costabel; Masahito Ebina; David M Hansell; Takeshi Johkoh; Dong Soon Kim; Talmadge E King; Yasuhiro Kondoh; Jeffrey Myers; Nestor L Müller; Andrew G Nicholson; Luca Richeldi; Moisés Selman; Rosalind F Dudden; Barbara S Griss; Shandra L Protzko; Holger J Schünemann
Journal:  Am J Respir Crit Care Med       Date:  2011-03-15       Impact factor: 21.405

Review 8.  The genetic approach in pulmonary fibrosis: can it provide clues to this complex disease?

Authors:  William E Lawson; James E Loyd
Journal:  Proc Am Thorac Soc       Date:  2006-06

Review 9.  [Interstitial processes of the lungs in childhood].

Authors:  H Popper
Journal:  Pathologe       Date:  2017-07       Impact factor: 1.011

10.  Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.

Authors:  William E Lawson; James E Loyd; Amber L Degryse
Journal:  Am J Med Sci       Date:  2011-06       Impact factor: 2.378

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