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Emphysema

MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
Synonym: Pulmonary emphysema
SNOMED CT: Pulmonary emphysema (87433001); Emphysema of lung (87433001)
 
HPO: HP:0002097
Monarch Initiative: MONDO:0004849

Definition

A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. [from NCI]

Conditions with this feature

Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.
T-lymphocyte deficiency
MedGen UID:
101814
Concept ID:
C0152094
Disease or Syndrome
T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019).
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.
Cutis laxa, autosomal recessive, type 1A
MedGen UID:
78663
Concept ID:
C0268351
Congenital Abnormality
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Cutis laxa - Marfanoid syndrome
MedGen UID:
96594
Concept ID:
C0432335
Disease or Syndrome
A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.
Emphysema, hereditary pulmonary
MedGen UID:
338765
Concept ID:
C1851718
Disease or Syndrome
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).
MHC class I deficiency
MedGen UID:
346868
Concept ID:
C1858266
Disease or Syndrome
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.
Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
MedGen UID:
347170
Concept ID:
C1859519
Disease or Syndrome
Sarcoidosis, susceptibility to, 2
MedGen UID:
436694
Concept ID:
C2676468
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
Sarcoidosis, susceptibility to, 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
MedGen UID:
442566
Concept ID:
C2750804
Disease or Syndrome
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.
Meier-Gorlin syndrome 4
MedGen UID:
462470
Concept ID:
C3151120
Disease or Syndrome
Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690.
Cutis laxa, autosomal dominant 1
MedGen UID:
478169
Concept ID:
C3276539
Disease or Syndrome
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Cutis laxa, autosomal recessive, type 1B
MedGen UID:
482428
Concept ID:
C3280798
Disease or Syndrome
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
Loeys-Dietz syndrome 4
MedGen UID:
766676
Concept ID:
C3553762
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Meier-Gorlin syndrome 6
MedGen UID:
905079
Concept ID:
C4225188
Disease or Syndrome
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.
Meier-Gorlin syndrome 1
MedGen UID:
1641240
Concept ID:
C4552001
Disease or Syndrome
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.
Epidermodysplasia verruciformis, susceptibility to, 4
MedGen UID:
1648396
Concept ID:
C4749042
Finding
Epidermodysplasia verruciformis-4 is an autosomal recessive immunologic disorder characterized by increased susceptibility to certain human papilloma viruses (HPV) that cause warts and skin lesions. Affected individuals present in childhood with disseminated flat warts and psoriatic-like lesions that do not respond to treatment. Immunologic workup shows defects in T-cell development and signaling (summary by Crequer et al., 2012). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).
Fanconi renotubular syndrome 5
MedGen UID:
1711127
Concept ID:
C5394473
Disease or Syndrome
Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).
Rajab interstitial lung disease with brain calcifications 1
MedGen UID:
1750003
Concept ID:
C5436276
Disease or Syndrome
Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
MedGen UID:
1841121
Concept ID:
C5830485
Disease or Syndrome
Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-7 (PFBMFT7) is an autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Features can include pulmonary fibrosis, emphysema, anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia (Stanley et al., 2016). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure syndromes, see PFBMFT1 (614742).

Professional guidelines

PubMed

MacLeod M, Papi A, Contoli M, Beghé B, Celli BR, Wedzicha JA, Fabbri LM
Respirology 2021 Jun;26(6):532-551. Epub 2021 Apr 24 doi: 10.1111/resp.14041. PMID: 33893708
Fazleen A, Wilkinson T
Ther Adv Respir Dis 2020 Jan-Dec;14:1753466620942128. doi: 10.1177/1753466620942128. PMID: 32664818Free PMC Article
Duffy SP, Criner GJ
Med Clin North Am 2019 May;103(3):453-461. Epub 2019 Mar 14 doi: 10.1016/j.mcna.2018.12.005. PMID: 30955513

Recent clinical studies

Etiology

Caceres JD, Venkata A
Curr Opin Pulm Med 2024 Mar 1;30(2):167-173. Epub 2023 Dec 26 doi: 10.1097/MCP.0000000000001044. PMID: 38164807
Fernandes D, Pereira S, Guedes C, Silva D
Acta Medica (Hradec Kralove) 2020;63(4):194-197. doi: 10.14712/18059694.2020.63. PMID: 33355081
Janssen R, Piscaer I, Franssen FME, Wouters EFM
Expert Rev Respir Med 2019 Apr;13(4):381-397. Epub 2019 Feb 22 doi: 10.1080/17476348.2019.1580575. PMID: 30761929
Antoniou KM, Bibaki E, Margaritopoulos GA
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Ott DE
JSLS 2014 Jan-Mar;18(1):1-7. doi: 10.4293/108680813X13693422520882. PMID: 24680136Free PMC Article

Diagnosis

Hashimoto E, Nagasaki K
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Therapy

Mornex JF, Traclet J, Guillaud O, Dechomet M, Lombard C, Ruiz M, Revel D, Reix P, Cottin V
Presse Med 2023 Sep;52(3):104170. Epub 2023 Jul 29 doi: 10.1016/j.lpm.2023.104170. PMID: 37517655
Cottin V, Selman M, Inoue Y, Wong AW, Corte TJ, Flaherty KR, Han MK, Jacob J, Johannson KA, Kitaichi M, Lee JS, Agusti A, Antoniou KM, Bianchi P, Caro F, Florenzano M, Galvin L, Iwasawa T, Martinez FJ, Morgan RL, Myers JL, Nicholson AG, Occhipinti M, Poletti V, Salisbury ML, Sin DD, Sverzellati N, Tonia T, Valenzuela C, Ryerson CJ, Wells AU
Am J Respir Crit Care Med 2022 Aug 15;206(4):e7-e41. doi: 10.1164/rccm.202206-1041ST. PMID: 35969190Free PMC Article
Janjua S, Mathioudakis AG, Fortescue R, Walker RA, Sharif S, Threapleton CJ, Dias S
Cochrane Database Syst Rev 2021 Jan 15;1(1):CD013198. doi: 10.1002/14651858.CD013198.pub2. PMID: 33448349Free PMC Article
Criner GJ, Sue R, Wright S, Dransfield M, Rivas-Perez H, Wiese T, Sciurba FC, Shah PL, Wahidi MM, de Oliveira HG, Morrissey B, Cardoso PFG, Hays S, Majid A, Pastis N Jr, Kopas L, Vollenweider M, McFadden PM, Machuzak M, Hsia DW, Sung A, Jarad N, Kornaszewska M, Hazelrigg S, Krishna G, Armstrong B, Shargill NS, Slebos DJ; LIBERATE Study Group
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Lancet Respir Med 2017 Feb;5(2):147-156. Epub 2016 Sep 29 doi: 10.1016/S2213-2600(16)30221-1. PMID: 27693408

Prognosis

Bofill A, Marco F
N Engl J Med 2021 Oct 21;385(17):e58. doi: 10.1056/NEJMicm2108779. PMID: 34670046
Luppi F, Kalluri M, Faverio P, Kreuter M, Ferrara G
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Clinical prediction guides

Dunican EM, Elicker BM, Henry T, Gierada DS, Schiebler ML, Anderson W, Barjaktarevic I, Barr RG, Bleecker ER, Boucher RC, Bowler R, Christenson SA, Comellas A, Cooper CB, Couper D, Criner GJ, Dransfield M, Doerschuk CM, Drummond MB, Hansel NN, Han MK, Hastie AT, Hoffman EA, Krishnan JA, Lazarus SC, Martinez FJ, McCulloch CE, O'Neal WK, Ortega VE, Paine R 3rd, Peters S, Schroeder JD, Woodruff PG, Fahy JV
Am J Respir Crit Care Med 2021 Apr 15;203(8):957-968. doi: 10.1164/rccm.202006-2248OC. PMID: 33180550Free PMC Article
Fazleen A, Wilkinson T
Ther Adv Respir Dis 2020 Jan-Dec;14:1753466620942128. doi: 10.1177/1753466620942128. PMID: 32664818Free PMC Article
Stockley JA, Cooper BG, Stockley RA, Sapey E
Int J Chron Obstruct Pulmon Dis 2017;12:2343-2353. Epub 2017 Aug 7 doi: 10.2147/COPD.S138540. PMID: 28848335Free PMC Article
Mouronte-Roibás C, Leiro-Fernández V, Fernández-Villar A, Botana-Rial M, Ramos-Hernández C, Ruano-Ravina A
Cancer Lett 2016 Nov 28;382(2):240-244. Epub 2016 Sep 22 doi: 10.1016/j.canlet.2016.09.002. PMID: 27666776
Nieri D, Neri T, Petrini S, Vagaggini B, Paggiaro P, Celi A
Eur Respir Rev 2016 Sep;25(141):266-77. doi: 10.1183/16000617.0009-2016. PMID: 27581826Free PMC Article

Recent systematic reviews

Desai R, Batura D
Int Urol Nephrol 2022 Apr;54(4):717-736. Epub 2022 Feb 1 doi: 10.1007/s11255-022-03131-6. PMID: 35103928
Janjua S, Mathioudakis AG, Fortescue R, Walker RA, Sharif S, Threapleton CJ, Dias S
Cochrane Database Syst Rev 2021 Jan 15;1(1):CD013198. doi: 10.1002/14651858.CD013198.pub2. PMID: 33448349Free PMC Article
Toumazis I, Bastani M, Han SS, Plevritis SK
Lung Cancer 2020 Sep;147:154-186. Epub 2020 Jul 12 doi: 10.1016/j.lungcan.2020.07.007. PMID: 32721652
Mouronte-Roibás C, Leiro-Fernández V, Fernández-Villar A, Botana-Rial M, Ramos-Hernández C, Ruano-Ravina A
Cancer Lett 2016 Nov 28;382(2):240-244. Epub 2016 Sep 22 doi: 10.1016/j.canlet.2016.09.002. PMID: 27666776
McIvor RA, Tunks M, Todd DC
BMJ Clin Evid 2011 Jun 6;2011 PMID: 21639960Free PMC Article

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