Combined pulmonary fibrosis-emphysema syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CPFE |
| Number of Symptoms | 24 |
| OrphanetNr: | 300564 |
| OMIM Id: |
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| ICD-10: |
J84.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Idiopathic interstitial pneumonia
-Rare respiratory disease |
Comment:
| Combined pulmonary fibrosis-emphysema syndrome (CPFE) is characterized by the presence of emphysema predominantly in the upper lobes, and lower lobe fibrosis with diffuse interstitial opacities (PMID:22587885). Prevalence of CPFE in asymptomatic smokers is 3.1 % and progression of the disease is associated with smoking status. (PMID:25680720) Due to the opposing effects of hyperinflation and fibrosis lung volumes are relatively preserved in patients with CPFE as opposed to patients with IPF without emphysema (PMID:19584202). |
Symptom Information:
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(HPO:0100749) | Chest pain | Occasional [IBIS] | 17% (n=60) | 16204587 | IBIS | 92 / 7739 |
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(HPO:0100759) | Clubbing of fingers | Frequent [IBIS] | 43% (n=60) | 16204587 | IBIS | 40 / 7739 |
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(HPO:0000961) | Cyanosis | 19462358 | IBIS | 60 / 7739 | ||
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(HPO:0004890) | Elevated pulmonary artery pressure | 20044456 | IBIS | 8 / 7739 | ||
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(HPO:0001677) | Coronary artery disease | 15950135 | IBIS | 58 / 7739 | ||
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(HPO:0002092) | Pulmonary hypertension | Frequent [IBIS] | 72% (n=29) | 19584202 | IBIS | 109 / 7739 |
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(HPO:0002206) | Pulmonary fibrosis | Very frequent [IBIS] | 19584202 | IBIS | 51 / 7739 | |
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(HPO:0002110) | Bronchiectasis | Frequent [IBIS] | 73% (n=60) | 19584202 | IBIS | 73 / 7739 |
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(HPO:0006530) | Interstitial pulmonary disease | 15950135 | IBIS | 26 / 7739 | ||
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(HPO:0012418) | Hypoxemia | 19584202 | IBIS | 18 / 7739 | ||
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(HPO:0002097) | Emphysema | Very frequent [IBIS] | 25680720 | IBIS | 40 / 7739 | |
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(HPO:0002875) | Exertional dyspnea | 19462358 | IBIS | 29 / 7739 | ||
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(HPO:0012415) | Abnormal blood gas level | 25680720 | IBIS | 9 / 7739 | ||
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(HPO:0002094) | Dyspnea | Very Frequent [IBIS] | 100% (n=60) | 16204587 | IBIS | 132 / 7739 |
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(HPO:0002795) | Functional respiratory abnormality | Frequent [IBIS] | 16204587 | IBIS | 13 / 7739 | |
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(HPO:0002093) | Respiratory insufficiency | 19462358 | IBIS | 410 / 7739 | ||
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(MedDRA:10065906) | Carbon monoxide diffusing capacity decreased | 15950135 | IBIS | 8 / 7739 | ||
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(MedDRA:10047924) | Wheezing | Occasional [IBIS] | 13% (n=60) | 16204587 | IBIS | 8 / 7739 |
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(OMIM) | Sputum production | Frequent [IBIS] | 36% (n=60) | 16204587 | IBIS | 3 / 7739 |
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(HPO:0002878) | Respiratory failure | 19462358 | IBIS | 57 / 7739 | ||
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(HPO:0012735) | Cough | Frequent [IBIS] | 48% (n=60) | 16204587 | IBIS | 24 / 7739 |
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(OMIM) | Inspiratory crackles (50%) | Frequent [IBIS] | 87% (n=60) | 16204587 | IBIS | 4 / 7739 |
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(OMIM) | Honeycomb fibrosis, varying in age and location | 15950135 | IBIS | 6 / 7739 | ||
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(OMIM) | Reduced diffusion capacity | 25680720 | IBIS | 8 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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