Display Settings:

Format

Send to:

Choose Destination

Idiopathic fibrosing alveolitis, chronic form(UIP; IPF)

MedGen UID:
321462
Concept ID:
C1800706
Disease or Syndrome
Synonyms: Familial idiopathic pulmonary fibrosis; Familial Pulmonary Fibrosis; Fibrocystic pulmonary dysplasia; Fibrosing alveolitis, cryptogenic; Hamman-Rich disease; Hamman-Rich syndrome; Idiopathic Pulmonary Fibrosis; IPF; SFTPC-Related Familial Pulmonary Fibrosis; TERC-Related Familial Pulmonary Fibrosis; TERT-Related Familial Pulmonary Fibrosis; UIP
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: IPF - Idiopathic pulmonary fibrosis (28168000); CFA - Cryptogenic fibrosing alveolitis (28168000); Usual interstitial pneumonia (28168000); Cryptogenic fibrosing alveolitis (28168000); Idiopathic pulmonary fibrosis (28168000); Usual interstitial pneumonitis (196125002); UIP - Usual interstitial pneumonitis (196125002); Familial idiopathic pulmonary fibrosis (426437004); Idiopathic fibrosing alveolitis, chronic form (28168000)
 
Genes (locations): MUC5B (11p15.5); SFTPA1 (10q22.3); SFTPA2 (10q22.3); SFTPC (8p21.3); TERT (5p15.33)
OMIM®: 178500

Disease characteristics

Excerpted from the GeneReview: Pulmonary Fibrosis, Familial
Familial pulmonary fibrosis (FPF in this GeneReview) is defined as idiopathic interstitial pneumonia (IIP) in two or more first-degree relatives (parent, sib, or offspring). Up to 20% of cases of IIP cluster in families. The clinical findings of IIP are bibasilar reticular abnormalities, ground glass opacities, or diffuse nodular lesions on high-resolution computed tomography and abnormal pulmonary function studies that include evidence of restriction (reduced VC with an increase in FEV1/FVC ratio) and/or impaired gas exchange (increased P(A-a)O2 with rest or exercise or decreased diffusion capacity of the lung for carbon monoxide [DLCO]). FPF usually presents between ages 50 and 70 years. FPF may be complicated by lung cancer; bronchoalveolar cell carcinoma, small-cell carcinoma, and adenocarcinoma have been described. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Janet L Talbert  |  David A Schwartz   view full author information

Additional descriptions

From OMIM
Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'pulmonary pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and PFBMFT2 (614743). Some patients with surfactant protein C deficiency (610913) who survive to adulthood manifest features of pulmonary fibrosis.  http://www.omim.org/entry/178500
From GHR
Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. Some people with idiopathic pulmonary fibrosis develop widened and rounded tips of the fingers and toes (clubbing) resulting from a shortage of oxygen. These features are relatively nonspecific; not everyone with these health problems has idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms. In people with idiopathic pulmonary fibrosis, scarring of the lungs increases over time until the lungs can no longer provide enough oxygen to the body's organs and tissues. Some people with idiopathic pulmonary fibrosis develop other serious lung conditions, including lung cancer, blood clots in the lungs (pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Most affected individuals survive 3 to 5 years after their diagnosis. However, the course of the disease is highly variable; some affected people become seriously ill within a few months, while others may live with the disease for a decade or longer. In most cases, idiopathic pulmonary fibrosis occurs in only one person in a family. These cases are described as sporadic. However, a small percentage of people with this disease have at least one other affected family member. When idiopathic pulmonary fibrosis occurs in multiple members of the same family, it is known as familial pulmonary fibrosis.  http://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis

Clinical features

Alveolar cell carcinoma
MedGen UID:
505921
Concept ID:
CN005678
Finding
Adenocarcinoma of the Bronchus.
Clubbing of fingers
MedGen UID:
451999
Concept ID:
CN117649
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Cirrhosis
MedGen UID:
504826
Concept ID:
CN001275
Finding
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Pulmonary hypertension
MedGen UID:
505097
Concept ID:
CN001893
Finding
Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization.
Hypergammaglobulinemia
MedGen UID:
220999
Concept ID:
C1306857
Finding
abnormally high globulin content of the blood.
Hypergammaglobulinemia
MedGen UID:
220999
Concept ID:
C1306857
Finding
abnormally high globulin content of the blood.
Pneumonia
MedGen UID:
505095
Concept ID:
CN001891
Finding
Inflammation of any part of the lung parenchyma.
Pulmonary hypertension
MedGen UID:
505097
Concept ID:
CN001893
Finding
Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization.
Pulmonary fibrosis
MedGen UID:
505156
Concept ID:
CN002000
Finding
Replacement of normal lung tissues are progressively replaced by fibroblasts and collagen.
Exertional dyspnea
MedGen UID:
505383
Concept ID:
CN002600
Finding
Alveolar cell carcinoma
MedGen UID:
505921
Concept ID:
CN005678
Finding
Adenocarcinoma of the Bronchus.
Hypergammaglobulinemia
MedGen UID:
220999
Concept ID:
C1306857
Finding
abnormally high globulin content of the blood.
Clubbing of fingers
MedGen UID:
451999
Concept ID:
CN117649
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGIdiopathic fibrosing alveolitis, chronic form

Recent clinical studies

Etiology

Zhang L, Ji Y, Kang Z, Lv C, Jiang W
Toxicol Appl Pharmacol 2015 Feb 15;283(1):50-6. Epub 2015 Jan 9 doi: 10.1016/j.taap.2015.01.001. [Epub ahead of print] PMID: 25582705
Matsuoka S, Yamashiro T, Matsushita S, Fujikawa A, Kotoku A, Yagihashi K, Kurihara Y, Nakajima Y
J Comput Assist Tomogr 2015 Mar-Apr;39(2):153-9. doi: 10.1097/RCT.0000000000000184. PMID: 25474146
Belkin A, Fier K, Albright K, Baird S, Crowe B, Eres L, Korn M, Maginn L, McCormick M, Root ED, Vierzba T, Wamboldt FS, Swigris JJ
BMC Pulm Med 2014 Nov 1;14:169. doi: 10.1186/1471-2466-14-169. [Epub ahead of print] PMID: 25361630Free PMC Article
Hu Y, Ma Z, Guo Z, Zhao F, Wang Y, Cai L, Yang J
Cell Biochem Biophys 2014 Nov;70(2):1385-91. doi: 10.1007/s12013-014-0068-4. PMID: 24938900
Desai MY, Karunakaravel K, Wu W, Agarwal S, Smedira NG, Lytle BW, Griffin BP
J Thorac Cardiovasc Surg 2014 Aug;148(2):475-81.e3. Epub 2013 Nov 15 doi: 10.1016/j.jtcvs.2013.08.087. [Epub ahead of print] PMID: 24246549

Diagnosis

Valeur NS, Stevens AM, Ferguson MR, Effmann EL, Iyer RS
AJR Am J Roentgenol 2015 Feb;204(2):408-22. doi: 10.2214/AJR.14.12461. PMID: 25615765
Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD, Leslie KO, Colby TV, Cockcroft DW, Churg AM, Yi ES
Hum Pathol 2015 Jan;46(1):147-52. Epub 2014 Oct 14 doi: 10.1016/j.humpath.2014.10.003. [Epub ahead of print] PMID: 25455995
Kinehara Y, Kida H, Inoue Y, Hirose M, Nakabayashi A, Takeuchi Y, Hayama Y, Fukushima K, Hirata H, Inoue K, Minami T, Nagatomo I, Takeda Y, Funakoshi T, Kijima T, Kumanogoh A
BMC Pulm Med 2014 Nov 4;14:172. doi: 10.1186/1471-2466-14-172. [Epub ahead of print] PMID: 25366193Free PMC Article
Le TT, Karmouty-Quintana H, Melicoff E, Le TT, Weng T, Chen NY, Pedroza M, Zhou Y, Davies J, Philip K, Molina J, Luo F, George AT, Garcia-Morales LJ, Bunge RR, Bruckner BA, Loebe M, Seethamraju H, Agarwal SK, Blackburn MR
J Immunol 2014 Oct 1;193(7):3755-68. Epub 2014 Aug 29 doi: 10.4049/jimmunol.1302470. [Epub ahead of print] PMID: 25172494Free PMC Article
Desai MY, Karunakaravel K, Wu W, Agarwal S, Smedira NG, Lytle BW, Griffin BP
J Thorac Cardiovasc Surg 2014 Aug;148(2):475-81.e3. Epub 2013 Nov 15 doi: 10.1016/j.jtcvs.2013.08.087. [Epub ahead of print] PMID: 24246549

Therapy

Zhang L, Ji Y, Kang Z, Lv C, Jiang W
Toxicol Appl Pharmacol 2015 Feb 15;283(1):50-6. Epub 2015 Jan 9 doi: 10.1016/j.taap.2015.01.001. [Epub ahead of print] PMID: 25582705
Guzy RD, Stoilov I, Elton TJ, Mecham RP, Ornitz DM
Am J Respir Cell Mol Biol 2015 Jan;52(1):116-28. doi: 10.1165/rcmb.2014-0184OC. PMID: 24988442Free PMC Article
Belkin A, Fier K, Albright K, Baird S, Crowe B, Eres L, Korn M, Maginn L, McCormick M, Root ED, Vierzba T, Wamboldt FS, Swigris JJ
BMC Pulm Med 2014 Nov 1;14:169. doi: 10.1186/1471-2466-14-169. [Epub ahead of print] PMID: 25361630Free PMC Article
Le TT, Karmouty-Quintana H, Melicoff E, Le TT, Weng T, Chen NY, Pedroza M, Zhou Y, Davies J, Philip K, Molina J, Luo F, George AT, Garcia-Morales LJ, Bunge RR, Bruckner BA, Loebe M, Seethamraju H, Agarwal SK, Blackburn MR
J Immunol 2014 Oct 1;193(7):3755-68. Epub 2014 Aug 29 doi: 10.4049/jimmunol.1302470. [Epub ahead of print] PMID: 25172494Free PMC Article
Safaeian L, Abed A, Vaseghi G
Eur J Pharmacol 2014 Oct 15;741:281-9. Epub 2014 Jul 21 doi: 10.1016/j.ejphar.2014.07.029. [Epub ahead of print] PMID: 25058906

Prognosis

Trăilă D, Mlădinescu OF, Oancea C, Tudorache V
Pneumologia 2015 Jan-Mar;64(1):8, 11-3. PMID: 26016050
Valeur NS, Stevens AM, Ferguson MR, Effmann EL, Iyer RS
AJR Am J Roentgenol 2015 Feb;204(2):408-22. doi: 10.2214/AJR.14.12461. PMID: 25615765
Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD, Leslie KO, Colby TV, Cockcroft DW, Churg AM, Yi ES
Hum Pathol 2015 Jan;46(1):147-52. Epub 2014 Oct 14 doi: 10.1016/j.humpath.2014.10.003. [Epub ahead of print] PMID: 25455995
Kinehara Y, Kida H, Inoue Y, Hirose M, Nakabayashi A, Takeuchi Y, Hayama Y, Fukushima K, Hirata H, Inoue K, Minami T, Nagatomo I, Takeda Y, Funakoshi T, Kijima T, Kumanogoh A
BMC Pulm Med 2014 Nov 4;14:172. doi: 10.1186/1471-2466-14-172. [Epub ahead of print] PMID: 25366193Free PMC Article
Desai MY, Karunakaravel K, Wu W, Agarwal S, Smedira NG, Lytle BW, Griffin BP
J Thorac Cardiovasc Surg 2014 Aug;148(2):475-81.e3. Epub 2013 Nov 15 doi: 10.1016/j.jtcvs.2013.08.087. [Epub ahead of print] PMID: 24246549

Clinical prediction guides

Zhang L, Ji Y, Kang Z, Lv C, Jiang W
Toxicol Appl Pharmacol 2015 Feb 15;283(1):50-6. Epub 2015 Jan 9 doi: 10.1016/j.taap.2015.01.001. [Epub ahead of print] PMID: 25582705
Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD, Leslie KO, Colby TV, Cockcroft DW, Churg AM, Yi ES
Hum Pathol 2015 Jan;46(1):147-52. Epub 2014 Oct 14 doi: 10.1016/j.humpath.2014.10.003. [Epub ahead of print] PMID: 25455995
Cheresh P, Morales-Nebreda L, Kim SJ, Yeldandi A, Williams DB, Cheng Y, Mutlu GM, Budinger GR, Ridge K, Schumacker PT, Bohr VA, Kamp DW
Am J Respir Cell Mol Biol 2015 Jan;52(1):25-36. doi: 10.1165/rcmb.2014-0038OC. PMID: 24918270Free PMC Article
Belkin A, Fier K, Albright K, Baird S, Crowe B, Eres L, Korn M, Maginn L, McCormick M, Root ED, Vierzba T, Wamboldt FS, Swigris JJ
BMC Pulm Med 2014 Nov 1;14:169. doi: 10.1186/1471-2466-14-169. [Epub ahead of print] PMID: 25361630Free PMC Article
Hu Y, Ma Z, Guo Z, Zhao F, Wang Y, Cai L, Yang J
Cell Biochem Biophys 2014 Nov;70(2):1385-91. doi: 10.1007/s12013-014-0068-4. PMID: 24938900

Recent systematic reviews

Thickett DR, Kendall C, Spencer LG, Screaton N, Wallace WA, Pinnock H, Bott J, Pigram L, Watson S, Millar AB
Thorax 2014 Dec;69(12):1136-40. Epub 2014 Oct 21 doi: 10.1136/thoraxjnl-2014-206284. [Epub ahead of print] PMID: 25335486
Covvey JR, Mancl EE
Ann Pharmacother 2014 Dec;48(12):1611-9. Epub 2014 Sep 8 doi: 10.1177/1060028014551015. [Epub ahead of print] PMID: 25202034
Selman M, Pardo A
Am J Respir Crit Care Med 2014 May 15;189(10):1161-72. doi: 10.1164/rccm.201312-2221PP. PMID: 24641682
Saketkoo LA, Mittoo S, Huscher D, Khanna D, Dellaripa PF, Distler O, Flaherty KR, Frankel S, Oddis CV, Denton CP, Fischer A, Kowal-Bielecka OM, LeSage D, Merkel PA, Phillips K, Pittrow D, Swigris J, Antoniou K, Baughman RP, Castelino FV, Christmann RB, Christopher-Stine L, Collard HR, Cottin V, Danoff S, Highland KB, Hummers L, Shah AA, Kim DS, Lynch DA, Miller FW, Proudman SM, Richeldi L, Ryu JH, Sandorfi N, Sarver C, Wells AU, Strand V, Matteson EL, Brown KK, Seibold JR; CTD-ILD Special Interest Group
Thorax 2014 May;69(5):428-36. Epub 2013 Dec 24 doi: 10.1136/thoraxjnl-2013-204202. [Epub ahead of print] PMID: 24368713Free PMC Article
Xaubet A, Ancochea J, Bollo E, Fernández-Fabrellas E, Franquet T, Molina-Molina M, Montero MA, Serrano-Mollar A; Sociedad Española de Neumología y Cirugía Torácica (SEPAR) Research Group on Diffuse Pulmonary Diseases
Arch Bronconeumol 2013 Aug;49(8):343-53. Epub 2013 Jun 4 doi: 10.1016/j.arbres.2013.03.011. [Epub ahead of print] PMID: 23742884

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...