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Pulmonary emphysema

MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
Synonym: 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
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 (the most common ocular feature); 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 the 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.
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.
Autosomal recessive cutis laxa type IA
MedGen UID:
78663
Concept ID:
C0268351
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, neonatal, with marfanoid phenotype
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 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).
Bare lymphocyte syndrome type 1
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 2
MedGen UID:
436694
Concept ID:
C2676468
Finding
Sarcoidosis 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
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.
T-lymphocyte deficiency
MedGen UID:
416700
Concept ID:
C2752083
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).
Rajab interstitial lung disease with brain calcifications
MedGen UID:
462260
Concept ID:
C3150910
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).
Meier-Gorlin syndrome 4
MedGen UID:
462470
Concept ID:
C3151120
Disease or Syndrome
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.
Autosomal recessive cutis laxa 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.
Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
MedGen UID:
812585
Concept ID:
C3806255
Disease or Syndrome
, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
Meier-gorlin syndrome 6
MedGen UID:
905079
Concept ID:
C4225188
Disease or Syndrome
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
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.

Recent clinical studies

Etiology

Song L, Leppig JA, Hubner RH, Lassen-Schmidt BC, Neumann K, Theilig DC, Feldhaus FW, Fahlenkamp UL, Hamm B, Song W, Jin Z, Doellinger F
Int J Chron Obstruct Pulmon Dis 2020;15:1877-1886. Epub 2020 Aug 3 doi: 10.2147/COPD.S253602. PMID: 32801683Free PMC Article
Buendia-Roldan I, Palma-Lopez A, Chan-Padilla D, Herrera I, Maldonado M, Fernández R, Martínez-Briseño D, Mejia M, Selman M
BMC Pulm Med 2020 Jun 9;20(1):164. doi: 10.1186/s12890-020-01204-9. PMID: 32517728Free PMC Article
Lee KM, Lee G, Kim A, Mok J, Lee JW, Jeong YJ, Jo EJ, Kim MH, Lee K, Kim KU, Park HK, Lee MK, Eom JS
Respir Res 2019 Aug 6;20(1):177. doi: 10.1186/s12931-019-1149-0. PMID: 31387600Free PMC Article
Lee SJ, Yoo JW, Ju S, Cho YJ, Kim JD, Kim SH, Jang IS, Jeong BK, Lee GW, Jeong YY, Kim HC, Bae K, Jeon KN, Lee JD
Thorac Cancer 2019 Mar;10(3):421-427. Epub 2018 Dec 2 doi: 10.1111/1759-7714.12920. PMID: 30507005Free PMC Article
Meier-Schroers M, Sprinkart AM, Becker M, Homsi R, Thomas D
Rofo 2018 Aug;190(8):733-739. Epub 2018 Mar 7 doi: 10.1055/a-0577-5619. PMID: 29514383

Diagnosis

Buendia-Roldan I, Palma-Lopez A, Chan-Padilla D, Herrera I, Maldonado M, Fernández R, Martínez-Briseño D, Mejia M, Selman M
BMC Pulm Med 2020 Jun 9;20(1):164. doi: 10.1186/s12890-020-01204-9. PMID: 32517728Free PMC Article
Lee KM, Lee G, Kim A, Mok J, Lee JW, Jeong YJ, Jo EJ, Kim MH, Lee K, Kim KU, Park HK, Lee MK, Eom JS
Respir Res 2019 Aug 6;20(1):177. doi: 10.1186/s12931-019-1149-0. PMID: 31387600Free PMC Article
O'Brien ME, Chandra D, Wilson RC, Karoleski CM, Fuhrman CR, Leader JK, Pu J, Zhang Y, Morris A, Nouraie S, Bon J, Urban Z, Sciurba FC
Respir Res 2019 Jun 24;20(1):128. doi: 10.1186/s12931-019-1098-7. PMID: 31234847Free PMC Article
Meier-Schroers M, Sprinkart AM, Becker M, Homsi R, Thomas D
Rofo 2018 Aug;190(8):733-739. Epub 2018 Mar 7 doi: 10.1055/a-0577-5619. PMID: 29514383
Murakami J, Ueda K, Sano F, Hayashi M, Nishimoto A, Hamano K
J Surg Res 2016 Feb;200(2):690-7. Epub 2015 Sep 9 doi: 10.1016/j.jss.2015.09.004. PMID: 26428090

Therapy

Aono K, Matsumoto J, Nakagawa S, Matsumoto T, Koga M, Migita K, Tominaga K, Sakai Y, Yamauchi A
Biochem Biophys Res Commun 2021 Jun 18;558:94-101. Epub 2021 Apr 24 doi: 10.1016/j.bbrc.2021.04.051. PMID: 33906112
Saad MI, McLeod L, Hodges C, Vlahos R, Rose-John S, Ruwanpura S, Jenkins BJ
Am J Respir Cell Mol Biol 2021 Feb;64(2):183-195. doi: 10.1165/rcmb.2020-0214OC. PMID: 33181031
Buendia-Roldan I, Palma-Lopez A, Chan-Padilla D, Herrera I, Maldonado M, Fernández R, Martínez-Briseño D, Mejia M, Selman M
BMC Pulm Med 2020 Jun 9;20(1):164. doi: 10.1186/s12890-020-01204-9. PMID: 32517728Free PMC Article
Lee SJ, Yoo JW, Ju S, Cho YJ, Kim JD, Kim SH, Jang IS, Jeong BK, Lee GW, Jeong YY, Kim HC, Bae K, Jeon KN, Lee JD
Thorac Cancer 2019 Mar;10(3):421-427. Epub 2018 Dec 2 doi: 10.1111/1759-7714.12920. PMID: 30507005Free PMC Article
Naito K, Yamasaki K, Yatera K, Akata K, Noguchi S, Kawanami T, Fukuda K, Kido T, Ishimoto H, Mukae H
Int J Chron Obstruct Pulmon Dis 2017;12:2111-2120. Epub 2017 Jul 20 doi: 10.2147/COPD.S140901. PMID: 28790814Free PMC Article

Prognosis

Song L, Leppig JA, Hubner RH, Lassen-Schmidt BC, Neumann K, Theilig DC, Feldhaus FW, Fahlenkamp UL, Hamm B, Song W, Jin Z, Doellinger F
Int J Chron Obstruct Pulmon Dis 2020;15:1877-1886. Epub 2020 Aug 3 doi: 10.2147/COPD.S253602. PMID: 32801683Free PMC Article
Lee KM, Lee G, Kim A, Mok J, Lee JW, Jeong YJ, Jo EJ, Kim MH, Lee K, Kim KU, Park HK, Lee MK, Eom JS
Respir Res 2019 Aug 6;20(1):177. doi: 10.1186/s12931-019-1149-0. PMID: 31387600Free PMC Article
Lee SJ, Yoo JW, Ju S, Cho YJ, Kim JD, Kim SH, Jang IS, Jeong BK, Lee GW, Jeong YY, Kim HC, Bae K, Jeon KN, Lee JD
Thorac Cancer 2019 Mar;10(3):421-427. Epub 2018 Dec 2 doi: 10.1111/1759-7714.12920. PMID: 30507005Free PMC Article
Naito K, Yamasaki K, Yatera K, Akata K, Noguchi S, Kawanami T, Fukuda K, Kido T, Ishimoto H, Mukae H
Int J Chron Obstruct Pulmon Dis 2017;12:2111-2120. Epub 2017 Jul 20 doi: 10.2147/COPD.S140901. PMID: 28790814Free PMC Article
Murakami J, Ueda K, Sano F, Hayashi M, Nishimoto A, Hamano K
J Surg Res 2016 Feb;200(2):690-7. Epub 2015 Sep 9 doi: 10.1016/j.jss.2015.09.004. PMID: 26428090

Clinical prediction guides

Aono K, Matsumoto J, Nakagawa S, Matsumoto T, Koga M, Migita K, Tominaga K, Sakai Y, Yamauchi A
Biochem Biophys Res Commun 2021 Jun 18;558:94-101. Epub 2021 Apr 24 doi: 10.1016/j.bbrc.2021.04.051. PMID: 33906112
Song L, Leppig JA, Hubner RH, Lassen-Schmidt BC, Neumann K, Theilig DC, Feldhaus FW, Fahlenkamp UL, Hamm B, Song W, Jin Z, Doellinger F
Int J Chron Obstruct Pulmon Dis 2020;15:1877-1886. Epub 2020 Aug 3 doi: 10.2147/COPD.S253602. PMID: 32801683Free PMC Article
Buendia-Roldan I, Palma-Lopez A, Chan-Padilla D, Herrera I, Maldonado M, Fernández R, Martínez-Briseño D, Mejia M, Selman M
BMC Pulm Med 2020 Jun 9;20(1):164. doi: 10.1186/s12890-020-01204-9. PMID: 32517728Free PMC Article
Lee KM, Lee G, Kim A, Mok J, Lee JW, Jeong YJ, Jo EJ, Kim MH, Lee K, Kim KU, Park HK, Lee MK, Eom JS
Respir Res 2019 Aug 6;20(1):177. doi: 10.1186/s12931-019-1149-0. PMID: 31387600Free PMC Article
Meier-Schroers M, Sprinkart AM, Becker M, Homsi R, Thomas D
Rofo 2018 Aug;190(8):733-739. Epub 2018 Mar 7 doi: 10.1055/a-0577-5619. PMID: 29514383

Recent systematic reviews

Dummer J, Dobler CC, Holmes M, Chambers D, Yang IA, Parkin L, Smith S, Wark P, Dev A, Hodge S, Dabscheck E, Gooi J, Samuel S, Knowles S, Holland AE
Respirology 2020 Mar;25(3):321-335. Epub 2020 Feb 6 doi: 10.1111/resp.13774. PMID: 32030868Free PMC Article
Jiang CG, Fu Q, Zheng CM
Ther Adv Respir Dis 2019 Jan-Dec;13:1753466619888119. doi: 10.1177/1753466619888119. PMID: 31722622Free PMC Article
Crossley D, Renton M, Khan M, Low EV, Turner AM
Int J Chron Obstruct Pulmon Dis 2018;13:547-563. Epub 2018 Feb 7 doi: 10.2147/COPD.S143066. PMID: 29445272Free PMC Article
Edgar RG, Patel M, Bayliss S, Crossley D, Sapey E, Turner AM
Int J Chron Obstruct Pulmon Dis 2017;12:1295-1308. Epub 2017 May 2 doi: 10.2147/COPD.S130440. PMID: 28496314Free 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

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