Clinical study
A family study of idiopathic pulmonary fibrosis: A possible dysproteinemic and genetically determined disease

https://doi.org/10.1016/0002-9343(65)90208-1Get rights and content

Abstract

This report describes an unusual family in which eight proved cases and three suspected cases of idiopathic pulmonary fibrosis have been identified in three of five generations examined. A pair of identical twins had concordant disease. These data indicate that interstitial pulmonary fibrosis, at least in this family, is a genetically determined disease which is transmitted as an autosomal dominant trait.

The propositus had a monoclonal, slowly-migrating gamma globulin spike in her serum. She had a significant peripheral blood eosinophilia. Three of her children had serum globulin abnormalities, and two other children have eosinophilia. None of these progeny have any pulmonary or other lesions identifiable by physical examination or by laboratory studies.

Eighty-two living kindred were examined in detail. Fifteen presumably healthy members had a significant peripheral blood eosinophilia. Two had hypogammaglobulinemia. Among other members of this family, one had rheumatoid arthritis, two had Raynaud's disease, one had Henoch-Schönlein's purpura and one had rheumatic fever. None of these eighty-two members had discernable idiopathic pulmonary fibrosis.

It is predictable on a genetic basis that in some of the healthy members of the fourth and fifth generations of this family pulmonary fibrosis will ultimately develop. Some of the abnormalities found in this population may then be identifiable as an early manifestation of disease.

References (9)

There are more references available in the full text version of this article.

Cited by (65)

  • Network analysis of transcriptomics data for the prediction and prioritization of membrane-associated biomarkers for idiopathic pulmonary fibrosis (IPF) by bioinformatics approach

    2021, Advances in Protein Chemistry and Structural Biology
    Citation Excerpt :

    The pathology and causal mechanism behind IPF remain elusive. Previous studies (Bonanni, Frymoyer, & Jacox, 1965; Kaur, Mathai, & Schwartz, 2017) have laid the foundation for understanding the prognosis and etiology of the disease. However, an integrated and contiguous study of genes and other affiliated factors has the aptitude to comprehend the destructive nature of IPF better and delineate significant therapeutic targets.

  • Interstitial Lung Disease

    2013, Genomic and Personalized Medicine
  • Interstitial Lung Disease

    2012, Genomic and Personalized Medicine
  • Genetics and Genomics of Interstitial Lung Disease

    2010, Essentials of Genomic and Personalized Medicine
View all citing articles on Scopus

This study was aided by Grant CRMC 24 from The National Foundation. It was presented at the American Association of Physicians Meeting on May 5, 1964, in Atlantic City, New Jersey.

1

From the Department of Medicine, The University of Rochester School of Medicine & Dentistry, Rochester, New York.

Present address: Mary Fletcher Hospital, Burlington, Vermont.

View full text