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Combined pulmonary fibrosis-emphysema syndrome

MedGen UID:
838971
Concept ID:
C3872815
Disease or Syndrome
Synonym: Pulmonary emphysema co-occurrent with fibrosis of lung
SNOMED CT: CPFE - combined pulmonary fibrosis and emphysema (708030004); Combined pulmonary fibrosis and emphysema syndrome (708030004); Pulmonary emphysema co-occurrent with fibrosis of lung (708030004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017591
Orphanet: ORPHA300564

Definition

A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined pulmonary fibrosis-emphysema syndrome

Recent clinical studies

Etiology

Antoniou KM, Walsh SL, Hansell DM, Rubens MR, Marten K, Tennant R, Hansel T, Desai SR, Siafakas NM, du Bois RM, Wells AU
Respirology 2013 Nov;18(8):1191-6. doi: 10.1111/resp.12154. PMID: 23819865

Diagnosis

Charleston-Villalobos S, Castaneda-Villa N, Gonzalez-Camarena R, Mejia-Avila M, Mateos-Toledo H, Aljama-Corrales T
Annu Int Conf IEEE Eng Med Biol Soc 2016 Aug;2016:3175-3178. doi: 10.1109/EMBC.2016.7591403. PMID: 28268982

Therapy

Charleston-Villalobos S, Castaneda-Villa N, Gonzalez-Camarena R, Mejia-Avila M, Mateos-Toledo H, Aljama-Corrales T
Annu Int Conf IEEE Eng Med Biol Soc 2016 Aug;2016:3175-3178. doi: 10.1109/EMBC.2016.7591403. PMID: 28268982
Antoniou KM, Walsh SL, Hansell DM, Rubens MR, Marten K, Tennant R, Hansel T, Desai SR, Siafakas NM, du Bois RM, Wells AU
Respirology 2013 Nov;18(8):1191-6. doi: 10.1111/resp.12154. PMID: 23819865

Prognosis

Charleston-Villalobos S, Castaneda-Villa N, Gonzalez-Camarena R, Mejia-Avila M, Mateos-Toledo H, Aljama-Corrales T
Annu Int Conf IEEE Eng Med Biol Soc 2016 Aug;2016:3175-3178. doi: 10.1109/EMBC.2016.7591403. PMID: 28268982

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