Familial interstitial pulmonary fibrosis in two different families in India: A case series
Introduction: Idiopathic pulmonary fibrosis (IPF), a chronic progressive interstitial lung disease (ILD), Occasionally, IPF occurs in families. Familial interstitial lung disease has been reported worldwide, limited information is available on the disease among Indian patients. Case Presentation: A...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Lung India |
| Subjects: | |
| Online Access: | http://www.lungindia.com/article.asp?issn=0970-2113;year=2017;volume=34;issue=5;spage=475;epage=479;aulast=Pradipkumar |
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| author | Dabhi Pradipkumar Arunachal Gautham Richa Gupta Prince James Balamugesh Thangakunam Devasahayam Jesudas Christopher |
| author_facet | Dabhi Pradipkumar Arunachal Gautham Richa Gupta Prince James Balamugesh Thangakunam Devasahayam Jesudas Christopher |
| author_sort | Dabhi Pradipkumar |
| collection | DOAJ |
| description | Introduction: Idiopathic pulmonary fibrosis (IPF), a chronic progressive interstitial lung disease (ILD), Occasionally, IPF occurs in families. Familial interstitial lung disease has been reported worldwide, limited information is available on the disease among Indian patients. Case Presentation: A 59-year-old woman presented with a 2-year history of progressive dyspnoea. Based on clinical and radiological features, our patient was diagnosed with idiopathic pulmonary fibrosis. Several family members of her first and second generations had died from respiratory failure. Her sister also diagnosed as IPF based on typical High resolution computed tomography (HRCT) finding though she was asymptomatic and came for screening. In addition, another male patient also had similar history and diagnosed as familial IPF based on HRCT and genetic testing in spite of significant occupational exposure. Genetic study revealed SFTPA1 gene was associated with susceptibility to idiopathic pulmonary fibrosis. Conclusion: Our report illustrates that asymptomatic screening of family member can uncover such a serious disease in patients with familial interstitial fibrosis. Otherwise, clinical, radiological, and histological features are indistinguishable from those of sporadic cases. Furthermore, our work highlights the importance of compiling a thorough family history in individuals presenting with cough and dyspnoea, particularly in younger patients identified with idiopathic pulmonary fibrosis. |
| first_indexed | 2024-04-12T13:37:19Z |
| format | Article |
| id | doaj.art-43140f7ed03240f0ad0f92d41737df68 |
| institution | Directory Open Access Journal |
| issn | 0970-2113 0974-598X |
| language | English |
| last_indexed | 2024-04-12T13:37:19Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Lung India |
| spelling | doaj.art-43140f7ed03240f0ad0f92d41737df682022-12-22T03:30:58ZengWolters Kluwer Medknow PublicationsLung India0970-21130974-598X2017-01-0134547547910.4103/0970-2113.213824Familial interstitial pulmonary fibrosis in two different families in India: A case seriesDabhi PradipkumarArunachal GauthamRicha GuptaPrince JamesBalamugesh ThangakunamDevasahayam Jesudas ChristopherIntroduction: Idiopathic pulmonary fibrosis (IPF), a chronic progressive interstitial lung disease (ILD), Occasionally, IPF occurs in families. Familial interstitial lung disease has been reported worldwide, limited information is available on the disease among Indian patients. Case Presentation: A 59-year-old woman presented with a 2-year history of progressive dyspnoea. Based on clinical and radiological features, our patient was diagnosed with idiopathic pulmonary fibrosis. Several family members of her first and second generations had died from respiratory failure. Her sister also diagnosed as IPF based on typical High resolution computed tomography (HRCT) finding though she was asymptomatic and came for screening. In addition, another male patient also had similar history and diagnosed as familial IPF based on HRCT and genetic testing in spite of significant occupational exposure. Genetic study revealed SFTPA1 gene was associated with susceptibility to idiopathic pulmonary fibrosis. Conclusion: Our report illustrates that asymptomatic screening of family member can uncover such a serious disease in patients with familial interstitial fibrosis. Otherwise, clinical, radiological, and histological features are indistinguishable from those of sporadic cases. Furthermore, our work highlights the importance of compiling a thorough family history in individuals presenting with cough and dyspnoea, particularly in younger patients identified with idiopathic pulmonary fibrosis.http://www.lungindia.com/article.asp?issn=0970-2113;year=2017;volume=34;issue=5;spage=475;epage=479;aulast=PradipkumarFamilial interstitial pulmonary fibrosishigh-resolution computed tomographyscreening |
| spellingShingle | Dabhi Pradipkumar Arunachal Gautham Richa Gupta Prince James Balamugesh Thangakunam Devasahayam Jesudas Christopher Familial interstitial pulmonary fibrosis in two different families in India: A case series Lung India Familial interstitial pulmonary fibrosis high-resolution computed tomography screening |
| title | Familial interstitial pulmonary fibrosis in two different families in India: A case series |
| title_full | Familial interstitial pulmonary fibrosis in two different families in India: A case series |
| title_fullStr | Familial interstitial pulmonary fibrosis in two different families in India: A case series |
| title_full_unstemmed | Familial interstitial pulmonary fibrosis in two different families in India: A case series |
| title_short | Familial interstitial pulmonary fibrosis in two different families in India: A case series |
| title_sort | familial interstitial pulmonary fibrosis in two different families in india a case series |
| topic | Familial interstitial pulmonary fibrosis high-resolution computed tomography screening |
| url | http://www.lungindia.com/article.asp?issn=0970-2113;year=2017;volume=34;issue=5;spage=475;epage=479;aulast=Pradipkumar |
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