Overview
Combined pulmonary fibrosis-emphysema syndrome (CPFE) is a rare lung condition where two different types of lung damage occur at the same time in the same person. In the upper parts of the lungs, there is emphysema — a condition where the tiny air sacs (alveoli) are destroyed, making it hard to breathe out. In the lower parts of the lungs, there is pulmonary fibrosis — a condition where lung tissue becomes scarred and stiff, making it hard to breathe in. Having both problems together creates a unique pattern of disease that is different from having either condition alone. The most common symptom is shortness of breath, especially during physical activity, which tends to get worse over time. Many patients also develop a persistent dry cough. A hallmark feature is that standard breathing tests (spirometry) may appear relatively normal because the two conditions can mask each other — emphysema causes over-inflation while fibrosis causes stiffness. However, the ability to transfer oxygen into the blood is severely reduced. Patients are at high risk for developing pulmonary hypertension (high blood pressure in the lung arteries), which is a serious complication that significantly worsens outcomes. CPFE is most commonly seen in men with a significant history of cigarette smoking, though genetic factors may also play a role. Treatment is largely supportive, as there is no cure. Doctors may prescribe supplemental oxygen, pulmonary rehabilitation, and medications to manage pulmonary hypertension. In some cases, antifibrotic drugs like pirfenidone or nintedanib may be considered for the fibrosis component. Lung transplantation may be an option for eligible patients with advanced disease.
Also known as:
Key symptoms:
Shortness of breath, especially with physical activityPersistent dry coughFatigue and low energyClubbing of the fingers (fingertips become rounded and enlarged)Crackling sounds heard in the lungs with a stethoscopeBluish color of the lips or fingertips (cyanosis)Reduced ability to exerciseSwelling in the legs or anklesUnexplained weight lossChest tightnessRapid breathingDizziness or fainting during exertion
Multifactorial
Caused by a mix of several genes and environmental factors
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Combined pulmonary fibrosis-emphysema syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined pulmonary fibrosis-emphysema syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Combined pulmonary fibrosis-emphysema syndrome.
Community
No community posts yet. Be the first to share your experience with Combined pulmonary fibrosis-emphysema syndrome.
Start the conversation →Latest news about Combined pulmonary fibrosis-emphysema syndrome
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Do I have pulmonary hypertension, and how will it be monitored?,Would antifibrotic medications like nintedanib or pirfenidone be appropriate for me?,Should I be referred for genetic testing given my diagnosis?,Am I a candidate for lung transplantation, and when should we discuss this option?,What pulmonary rehabilitation programs are available near me?,How often should I have CT scans and lung function tests to track my disease?,What screening should I have for lung cancer given my increased risk?
Common questions about Combined pulmonary fibrosis-emphysema syndrome
What is Combined pulmonary fibrosis-emphysema syndrome?
Combined pulmonary fibrosis-emphysema syndrome (CPFE) is a rare lung condition where two different types of lung damage occur at the same time in the same person. In the upper parts of the lungs, there is emphysema — a condition where the tiny air sacs (alveoli) are destroyed, making it hard to breathe out. In the lower parts of the lungs, there is pulmonary fibrosis — a condition where lung tissue becomes scarred and stiff, making it hard to breathe in. Having both problems together creates a unique pattern of disease that is different from having either condition alone. The most common symp
How is Combined pulmonary fibrosis-emphysema syndrome inherited?
Combined pulmonary fibrosis-emphysema syndrome follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined pulmonary fibrosis-emphysema syndrome typically begin?
Typical onset of Combined pulmonary fibrosis-emphysema syndrome is adult. Age of onset can vary across affected individuals.
Which specialists treat Combined pulmonary fibrosis-emphysema syndrome?
2 specialists and care centers treating Combined pulmonary fibrosis-emphysema syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.