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Chronic obstructive pulmonary disease(COPD)

MedGen UID:
9818
Concept ID:
C0024117
Disease or Syndrome
Synonym: COPD
SNOMED CT: Chronic obstructive lung disease (13645005); Chronic airway obstruction (13645005); Chronic irreversible airway obstruction (13645005); CAFL - Chronic airflow limitation (13645005); COAD - Chronic obstructive airways disease (13645005); Chronic airflow limitation (13645005); CAL - Chronic airflow limitation (13645005); COPD - Chronic obstructive pulmonary disease (13645005); Chronic obstructive airway disease (13645005); Chronic airway disease (13645005); COLD - Chronic obstructive lung disease (13645005); Chronic obstructive pulmonary disease (13645005)
 
Related genes: SCNN1G, SCNN1B, SCNN1A, MMP1, HMOX1, CFTR
 
HPO: HP:0006510
Monarch Initiative: MONDO:0005002
OMIM®: 606963

Definition

Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004). [from OMIM]

Clinical features

From HPO
Chronic obstructive pulmonary disease
MedGen UID:
9818
Concept ID:
C0024117
Disease or Syndrome
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).

Conditions with this feature

Chronic obstructive pulmonary disease
MedGen UID:
9818
Concept ID:
C0024117
Disease or Syndrome
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).
Alpha-1-antitrypsin deficiency
MedGen UID:
67461
Concept ID:
C0221757
Disease or Syndrome
Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with chronic obstructive lung disease (emphysema and/or bronchiectasis), characteristically in individuals older than age 30 years. Individuals with AATD are also at increased risk for panniculitis (migratory, inflammatory, tender skin nodules which may ulcerate on legs and lower abdomen) and C-ANCA-positive vasculitis (granulomatosis with polyangiitis). Phenotypic expression varies within and between families. In adults, smoking is the major factor in accelerating the development of COPD; nonsmokers may have a normal life span, but can also develop lung and/or liver disease. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as neonatal cholestasis. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD.
Emphysema, hereditary pulmonary
MedGen UID:
338765
Concept ID:
C1851718
Disease or Syndrome
Mucus inspissation of respiratory tract
MedGen UID:
340702
Concept ID:
C1854729
Disease or Syndrome
COPD, severe early-onset
MedGen UID:
370111
Concept ID:
C1969833
Disease or Syndrome
Primary ciliary dyskinesia 25
MedGen UID:
815971
Concept ID:
C3809641
Disease or Syndrome
Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Immunodeficiency, common variable, 12
MedGen UID:
906018
Concept ID:
C4225277
Disease or Syndrome
Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Severe combined immunodeficiency due to CARMIL2 deficiency
MedGen UID:
1648422
Concept ID:
C4748304
Disease or Syndrome
Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).
Ciliary dyskinesia, primary, 42
MedGen UID:
1684665
Concept ID:
C5231464
Disease or Syndrome
Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Boon et al., 2014). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
MedGen UID:
1740566
Concept ID:
C5436549
Disease or Syndrome
Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020).

Recent clinical studies

Etiology

Wang Z, Locantore N, Haldar K, Ramsheh MY, Beech AS, Ma W, Brown JR, Tal-Singer R, Barer MR, Bafadhel M, Donaldson GC, Wedzicha JA, Singh D, Wilkinson TMA, Miller BE, Brightling CE
Am J Respir Crit Care Med 2021 Jun 15;203(12):1488-1502. doi: 10.1164/rccm.202009-3448OC. PMID: 33332995
Lee AHY, Snowden CP, Hopkinson NS, Pattinson KTS
Anaesthesia 2021 May;76(5):681-694. Epub 2020 Jul 25 doi: 10.1111/anae.15187. PMID: 32710678
Luckett T, San Martin A, Currow DC, Johnson MJ, Barnes-Harris MM, Phillips JL
Palliat Med 2020 Dec;34(10):1291-1304. Epub 2020 Jul 28 doi: 10.1177/0269216320940153. PMID: 32720568
Hwang HJ, Lee SM, Seo JB, Lee JS, Kim N, Lee SW, Oh YM
Korean J Radiol 2020 Sep;21(9):1104-1113. doi: 10.3348/kjr.2019.0936. PMID: 32691546Free PMC Article
Andell P, James S, Östlund O, Yndigegn T, Sparv D, Pernow J, Jernberg T, Lindahl B, Herlitz J, Erlinge D, Hofmann R
Eur Heart J Acute Cardiovasc Care 2020 Dec;9(8):984-992. Epub 2019 May 13 doi: 10.1177/2048872619848978. PMID: 31081342

Diagnosis

Wang Z, Locantore N, Haldar K, Ramsheh MY, Beech AS, Ma W, Brown JR, Tal-Singer R, Barer MR, Bafadhel M, Donaldson GC, Wedzicha JA, Singh D, Wilkinson TMA, Miller BE, Brightling CE
Am J Respir Crit Care Med 2021 Jun 15;203(12):1488-1502. doi: 10.1164/rccm.202009-3448OC. PMID: 33332995
Wang J, She Y, Wang M, Zhang Y, Lin Y, Zhu X
J Adv Nurs 2021 Jan;77(1):244-254. Epub 2020 Oct 15 doi: 10.1111/jan.14605. PMID: 33058188
Luckett T, San Martin A, Currow DC, Johnson MJ, Barnes-Harris MM, Phillips JL
Palliat Med 2020 Dec;34(10):1291-1304. Epub 2020 Jul 28 doi: 10.1177/0269216320940153. PMID: 32720568
Lin YC, Huang CC, Lin MC, Huang ST
Int J Urol 2020 May;27(5):415-422. Epub 2020 Mar 10 doi: 10.1111/iju.14211. PMID: 32153068
Romem A, Rokach A, Bohadana A, Babai P, Arish N, Azulai H, Glazer M, Izbicki G
Respiration 2020;99(1):35-42. Epub 2019 Nov 6 doi: 10.1159/000503328. PMID: 31694032

Therapy

Lee AHY, Snowden CP, Hopkinson NS, Pattinson KTS
Anaesthesia 2021 May;76(5):681-694. Epub 2020 Jul 25 doi: 10.1111/anae.15187. PMID: 32710678
Cao A, Feng F, Zhang L, Zhou X
Clin Rehabil 2020 Aug;34(8):1004-1013. Epub 2020 Jun 10 doi: 10.1177/0269215520926635. PMID: 32517512
Butler SJ, Ellerton L, Gershon AS, Goldstein RS, Brooks D
Palliat Med 2020 Sep;34(8):1030-1043. Epub 2020 Jun 2 doi: 10.1177/0269216320929556. PMID: 32484762
Lin YC, Huang CC, Lin MC, Huang ST
Int J Urol 2020 May;27(5):415-422. Epub 2020 Mar 10 doi: 10.1111/iju.14211. PMID: 32153068
Andell P, James S, Östlund O, Yndigegn T, Sparv D, Pernow J, Jernberg T, Lindahl B, Herlitz J, Erlinge D, Hofmann R
Eur Heart J Acute Cardiovasc Care 2020 Dec;9(8):984-992. Epub 2019 May 13 doi: 10.1177/2048872619848978. PMID: 31081342

Prognosis

Ono M, Kobayashi S, Hanagama M, Ishida M, Sato H, Makiguchi T, Yanai M
PLoS One 2020;15(11):e0239764. Epub 2020 Nov 10 doi: 10.1371/journal.pone.0239764. PMID: 33170864Free PMC Article
Luckett T, San Martin A, Currow DC, Johnson MJ, Barnes-Harris MM, Phillips JL
Palliat Med 2020 Dec;34(10):1291-1304. Epub 2020 Jul 28 doi: 10.1177/0269216320940153. PMID: 32720568
Andell P, James S, Östlund O, Yndigegn T, Sparv D, Pernow J, Jernberg T, Lindahl B, Herlitz J, Erlinge D, Hofmann R
Eur Heart J Acute Cardiovasc Care 2020 Dec;9(8):984-992. Epub 2019 May 13 doi: 10.1177/2048872619848978. PMID: 31081342
Bonnesen B, Baunbæk Egelund G, Vestergaard Jensen A, Andersen S, Trier Petersen P, Rohde G, Ravn P
Infect Dis (Lond) 2019 May;51(5):340-347. Epub 2019 Apr 2 doi: 10.1080/23744235.2019.1565416. PMID: 30938220
Admon AJ, Sjoding MW, Lyon SM, Ayanian JZ, Iwashyna TJ, Cooke CR
Ann Am Thorac Soc 2019 Jul;16(7):886-893. doi: 10.1513/AnnalsATS.201811-777OC. PMID: 30811951Free PMC Article

Clinical prediction guides

Dinparast F, Sharifi A, Moradi S, Alipour M, Alipour B
BMC Pulm Med 2021 Jan 6;21(1):8. doi: 10.1186/s12890-020-01383-5. PMID: 33407325Free PMC Article
Ono M, Kobayashi S, Hanagama M, Ishida M, Sato H, Makiguchi T, Yanai M
PLoS One 2020;15(11):e0239764. Epub 2020 Nov 10 doi: 10.1371/journal.pone.0239764. PMID: 33170864Free PMC Article
Luckett T, San Martin A, Currow DC, Johnson MJ, Barnes-Harris MM, Phillips JL
Palliat Med 2020 Dec;34(10):1291-1304. Epub 2020 Jul 28 doi: 10.1177/0269216320940153. PMID: 32720568
Butler SJ, Ellerton L, Gershon AS, Goldstein RS, Brooks D
Palliat Med 2020 Sep;34(8):1030-1043. Epub 2020 Jun 2 doi: 10.1177/0269216320929556. PMID: 32484762
Lin YC, Huang CC, Lin MC, Huang ST
Int J Urol 2020 May;27(5):415-422. Epub 2020 Mar 10 doi: 10.1111/iju.14211. PMID: 32153068

Recent systematic reviews

Luckett T, San Martin A, Currow DC, Johnson MJ, Barnes-Harris MM, Phillips JL
Palliat Med 2020 Dec;34(10):1291-1304. Epub 2020 Jul 28 doi: 10.1177/0269216320940153. PMID: 32720568
Micklewright K, Farquhar M
Palliat Med 2020 Dec;34(10):1305-1315. Epub 2020 Jul 16 doi: 10.1177/0269216320939243. PMID: 32669040Free PMC Article
Cao A, Feng F, Zhang L, Zhou X
Clin Rehabil 2020 Aug;34(8):1004-1013. Epub 2020 Jun 10 doi: 10.1177/0269215520926635. PMID: 32517512
Butler SJ, Ellerton L, Gershon AS, Goldstein RS, Brooks D
Palliat Med 2020 Sep;34(8):1030-1043. Epub 2020 Jun 2 doi: 10.1177/0269216320929556. PMID: 32484762
Noonan MC, Wingham J, Dalal HM, Taylor RS
J Adv Nurs 2019 Dec;75(12):3331-3345. Epub 2019 Sep 3 doi: 10.1111/jan.14172. PMID: 31441088

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