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Idiopathic Pulmonary Fibrosis(IPF)

MedGen UID:
321462
Concept ID:
C1800706
Disease or Syndrome
Synonyms: Familial idiopathic pulmonary fibrosis; Familial Pulmonary Fibrosis; Fibrocystic pulmonary dysplasia; Fibrosing alveolitis, cryptogenic; Idiopathic fibrosing alveolitis, chronic form; IPF; SFTPC-Related Familial Pulmonary Fibrosis
SNOMED CT: Usual interstitial pneumonia (700250006); Idiopathic fibrosing alveolitis (700250006); Cryptogenic fibrosing alveolitis (700250006); Idiopathic pulmonary fibrosis (700250006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): MUC5B (11p15.5); SFTPA2 (10q22.3); SFTPC (8p21.3); TERT (5p15.33)
 
Monarch Initiative: MONDO:0008345
OMIM®: 178500
Orphanet: ORPHA2032

Definition

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 'idiopathic 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. [from OMIM]

Additional description

From MedlinePlus Genetics
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. Idiopathic pulmonary fibrosis belongs to a group of conditions called interstitial lung diseases (also known as ILD), which describes lung diseases that involve inflammation or scarring in the lung.\n\nThe 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.\n\nIn 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.\n\nIn 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.  https://medlineplus.gov/genetics/condition/idiopathic-pulmonary-fibrosis

Clinical features

From HPO
Alveolar cell carcinoma
MedGen UID:
2871
Concept ID:
C0007120
Neoplastic Process
A solitary adenocarcinoma arising from the lung and measuring 3 cm or less in size. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
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.
Increased antibody level in blood
MedGen UID:
1713383
Concept ID:
C5397581
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract.
Alveolar cell carcinoma
MedGen UID:
2871
Concept ID:
C0007120
Neoplastic Process
A solitary adenocarcinoma arising from the lung and measuring 3 cm or less in size. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, often repetitive, spasmodic contraction of the thoracic cavity, resulting in violent release of air from the lungs, and usually accompanied by a distinctive sound.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).
Exertional dyspnea
MedGen UID:
68549
Concept ID:
C0231807
Sign or Symptom
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Decreased DLCO
MedGen UID:
892993
Concept ID:
C4073175
Finding
Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
Usual interstitial pneumonia
MedGen UID:
1662563
Concept ID:
C4721509
Disease or Syndrome
Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.
Elevated bronchoalveolar lavage fluid neutrophil proportion
MedGen UID:
1710230
Concept ID:
C5397969
Finding
Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.
Increased antibody level in blood
MedGen UID:
1713383
Concept ID:
C5397581
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
Increased antibody level in blood
MedGen UID:
1713383
Concept ID:
C5397581
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
Increased antibody level in blood
MedGen UID:
1713383
Concept ID:
C5397581
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.

Recent clinical studies

Etiology

Tomassetti S, Ravaglia C, Wells AU, Cavazza A, Colby TV, Rossi G, Ley B, Ryu JH, Puglisi S, Arcadu A, Marchi M, Sultani F, Martinello S, Donati L, Gurioli C, Gurioli C, Tantalocco P, Hetzel J, Dubini A, Piciucchi S, Klersy C, Lavorini F, Poletti V
Lancet Respir Med 2020 Aug;8(8):786-794. doi: 10.1016/S2213-2600(20)30122-3. PMID: 32763205
Tanaka K, Tsutani Y, Wakabayashi M, Mizutani T, Aokage K, Miyata Y, Kuroda H, Saji H, Watanabe SI, Okada M; behalf of the Lung Cancer Surgical Study Group/Japan Clinical Oncology Group.
Jpn J Clin Oncol 2020 Sep 5;50(9):1076-1079. doi: 10.1093/jjco/hyaa092. PMID: 32548619
Kondoh Y, Azuma A, Inoue Y, Ogura T, Sakamoto S, Tsushima K, Johkoh T, Fujimoto K, Ichikado K, Matsuzawa Y, Saito T, Kishi K, Tomii K, Sakamoto N, Aoshima M, Araya J, Izumi S, Arita M, Abe M, Yamauchi H, Shindoh J, Suda T, Okamoto M, Ebina M, Yamada Y, Tohda Y, Kawamura T, Taguchi Y, Ishii H, Hashimoto N, Abe S, Taniguchi H, Tagawa J, Bessho K, Yamamori N, Homma S
Am J Respir Crit Care Med 2020 May 1;201(9):1110-1119. doi: 10.1164/rccm.201909-1818OC. PMID: 31917621
Wright JL, Churg A, Hague CJ, Wong A, Ryerson CJ
Mod Pathol 2020 Apr;33(4):616-625. Epub 2019 Oct 28 doi: 10.1038/s41379-019-0389-3. PMID: 31659276
Igai Y
Jpn J Nurs Sci 2019 Jul;16(3):241-252. Epub 2018 Nov 14 doi: 10.1111/jjns.12242. PMID: 30430734

Diagnosis

Miyashita K, Kono M, Saito G, Koyanagi Y, Tsutsumi A, Kobayashi T, Miki Y, Hashimoto D, Nakamura Y, Suda T, Nakamura H
Clin Respir J 2021 Mar;15(3):336-344. Epub 2020 Dec 10 doi: 10.1111/crj.13304. PMID: 33197284
Sgalla G, Larici AR, Golfi N, Calvello M, Farchione A, Del Ciello A, Varone F, Iovene B, Manfredi R, Richeldi L
BMC Pulm Med 2020 Sep 21;20(1):249. doi: 10.1186/s12890-020-01289-2. PMID: 32957969Free PMC Article
Tomassetti S, Ravaglia C, Wells AU, Cavazza A, Colby TV, Rossi G, Ley B, Ryu JH, Puglisi S, Arcadu A, Marchi M, Sultani F, Martinello S, Donati L, Gurioli C, Gurioli C, Tantalocco P, Hetzel J, Dubini A, Piciucchi S, Klersy C, Lavorini F, Poletti V
Lancet Respir Med 2020 Aug;8(8):786-794. doi: 10.1016/S2213-2600(20)30122-3. PMID: 32763205
Wright JL, Churg A, Hague CJ, Wong A, Ryerson CJ
Mod Pathol 2020 Apr;33(4):616-625. Epub 2019 Oct 28 doi: 10.1038/s41379-019-0389-3. PMID: 31659276
Aso S, Matsui H, Fushimi K, Yasunaga H
Sarcoidosis Vasc Diffuse Lung Dis 2019;36(2):116-123. Epub 2019 May 1 doi: 10.36141/svdld.v36i2.7181. PMID: 32476944Free PMC Article

Therapy

Nemoto M, Zaizen Y, Kataoka K, Kuroda K, Tabata K, Bychkov A, Sumikawa H, Johkoh T, Aoshima M, Kondoh Y, Fukuoka J
PLoS One 2021;16(1):e0245147. Epub 2021 Jan 7 doi: 10.1371/journal.pone.0245147. PMID: 33411718Free PMC Article
Espindola MS, Habiel DM, Coelho AL, Stripp B, Parks WC, Oldham J, Martinez FJ, Noth I, Lopez D, Mikels-Vigdal A, Smith V, Hogaboam CM
Am J Respir Crit Care Med 2021 Feb 15;203(4):458-470. doi: 10.1164/rccm.201910-1977OC. PMID: 33052708Free PMC Article
Tanaka K, Tsutani Y, Wakabayashi M, Mizutani T, Aokage K, Miyata Y, Kuroda H, Saji H, Watanabe SI, Okada M; behalf of the Lung Cancer Surgical Study Group/Japan Clinical Oncology Group.
Jpn J Clin Oncol 2020 Sep 5;50(9):1076-1079. doi: 10.1093/jjco/hyaa092. PMID: 32548619
Kondoh Y, Azuma A, Inoue Y, Ogura T, Sakamoto S, Tsushima K, Johkoh T, Fujimoto K, Ichikado K, Matsuzawa Y, Saito T, Kishi K, Tomii K, Sakamoto N, Aoshima M, Araya J, Izumi S, Arita M, Abe M, Yamauchi H, Shindoh J, Suda T, Okamoto M, Ebina M, Yamada Y, Tohda Y, Kawamura T, Taguchi Y, Ishii H, Hashimoto N, Abe S, Taniguchi H, Tagawa J, Bessho K, Yamamori N, Homma S
Am J Respir Crit Care Med 2020 May 1;201(9):1110-1119. doi: 10.1164/rccm.201909-1818OC. PMID: 31917621
Igai Y
Jpn J Nurs Sci 2019 Jul;16(3):241-252. Epub 2018 Nov 14 doi: 10.1111/jjns.12242. PMID: 30430734

Prognosis

Nemoto M, Zaizen Y, Kataoka K, Kuroda K, Tabata K, Bychkov A, Sumikawa H, Johkoh T, Aoshima M, Kondoh Y, Fukuoka J
PLoS One 2021;16(1):e0245147. Epub 2021 Jan 7 doi: 10.1371/journal.pone.0245147. PMID: 33411718Free PMC Article
Miyashita K, Kono M, Saito G, Koyanagi Y, Tsutsumi A, Kobayashi T, Miki Y, Hashimoto D, Nakamura Y, Suda T, Nakamura H
Clin Respir J 2021 Mar;15(3):336-344. Epub 2020 Dec 10 doi: 10.1111/crj.13304. PMID: 33197284
Tomassetti S, Ravaglia C, Wells AU, Cavazza A, Colby TV, Rossi G, Ley B, Ryu JH, Puglisi S, Arcadu A, Marchi M, Sultani F, Martinello S, Donati L, Gurioli C, Gurioli C, Tantalocco P, Hetzel J, Dubini A, Piciucchi S, Klersy C, Lavorini F, Poletti V
Lancet Respir Med 2020 Aug;8(8):786-794. doi: 10.1016/S2213-2600(20)30122-3. PMID: 32763205
Kondoh Y, Azuma A, Inoue Y, Ogura T, Sakamoto S, Tsushima K, Johkoh T, Fujimoto K, Ichikado K, Matsuzawa Y, Saito T, Kishi K, Tomii K, Sakamoto N, Aoshima M, Araya J, Izumi S, Arita M, Abe M, Yamauchi H, Shindoh J, Suda T, Okamoto M, Ebina M, Yamada Y, Tohda Y, Kawamura T, Taguchi Y, Ishii H, Hashimoto N, Abe S, Taniguchi H, Tagawa J, Bessho K, Yamamori N, Homma S
Am J Respir Crit Care Med 2020 May 1;201(9):1110-1119. doi: 10.1164/rccm.201909-1818OC. PMID: 31917621
Wright JL, Churg A, Hague CJ, Wong A, Ryerson CJ
Mod Pathol 2020 Apr;33(4):616-625. Epub 2019 Oct 28 doi: 10.1038/s41379-019-0389-3. PMID: 31659276

Clinical prediction guides

Hou J, Ji Q, Ji J, Ju S, Xu C, Yong X, Xu X, Muddassir M, Chen X, Xie J, Han X
Theranostics 2021;11(7):3244-3261. Epub 2021 Jan 9 doi: 10.7150/thno.54217. PMID: 33537085Free PMC Article
Nemoto M, Zaizen Y, Kataoka K, Kuroda K, Tabata K, Bychkov A, Sumikawa H, Johkoh T, Aoshima M, Kondoh Y, Fukuoka J
PLoS One 2021;16(1):e0245147. Epub 2021 Jan 7 doi: 10.1371/journal.pone.0245147. PMID: 33411718Free PMC Article
Sgalla G, Larici AR, Golfi N, Calvello M, Farchione A, Del Ciello A, Varone F, Iovene B, Manfredi R, Richeldi L
BMC Pulm Med 2020 Sep 21;20(1):249. doi: 10.1186/s12890-020-01289-2. PMID: 32957969Free PMC Article
Wright JL, Churg A, Hague CJ, Wong A, Ryerson CJ
Mod Pathol 2020 Apr;33(4):616-625. Epub 2019 Oct 28 doi: 10.1038/s41379-019-0389-3. PMID: 31659276
Igai Y
Jpn J Nurs Sci 2019 Jul;16(3):241-252. Epub 2018 Nov 14 doi: 10.1111/jjns.12242. PMID: 30430734

Recent systematic reviews

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