Overview
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH) is a rare and serious lung condition that affects the small blood vessels inside the lungs. In PVOD, the tiny veins that carry blood away from the lungs become blocked or scarred, making it very hard for blood to flow properly. In PCH, abnormal small blood vessels grow out of control inside the lung tissue. These two conditions are closely related and often overlap, which is why they are grouped together. Both lead to a dangerous rise in blood pressure inside the lungs, a condition called pulmonary arterial hypertension (PAH). As the disease progresses, the heart has to work much harder to pump blood through the lungs. Over time, this strains the right side of the heart and can lead to heart failure. People with PVOD/PCH often feel very short of breath, especially during activity, and may feel extremely tired even at rest. Other symptoms include a persistent cough, low oxygen levels in the blood, and fluid buildup in the body. Treatment is very challenging. Most standard pulmonary hypertension medications can actually make PVOD/PCH worse by causing dangerous fluid to build up in the lungs. The only known cure is a lung transplant. Some patients with a genetic form of the disease caused by changes in the EIF2AK4 gene may be identified earlier through genetic testing. Research into better treatments is ongoing, but this remains one of the most difficult forms of pulmonary hypertension to manage.
Key symptoms:
Shortness of breath, especially during physical activityExtreme tiredness and fatiguePersistent dry coughLow oxygen levels in the bloodBluish tint to the lips or fingertips (cyanosis)Swelling in the legs, ankles, or feetFainting or near-fainting spellsChest pain or pressureRapid or irregular heartbeatReduced ability to exercise or do daily activitiesFluid buildup in the lungs (pulmonary edema)Clubbing of the fingers (rounded, enlarged fingertips)
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis.
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Specialists
View all specialists →No specialists are currently listed for Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis.
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 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis.
Community
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Caregiver 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.Should I have genetic testing for the EIF2AK4 gene, and what would a positive result mean for me and my family?,Am I a candidate for lung transplantation, and when should I be referred to a transplant center?,Which pulmonary hypertension medications are safe for me, and which ones should I avoid?,How often should I have follow-up tests, and what signs of worsening should I watch for at home?,What oxygen therapy do I need, and how will this change as my disease progresses?,Are there any clinical trials I could join?,What support services — such as social work, pulmonary rehabilitation, or mental health support — are available to me?
Common questions about Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
What is Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis?
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH) is a rare and serious lung condition that affects the small blood vessels inside the lungs. In PVOD, the tiny veins that carry blood away from the lungs become blocked or scarred, making it very hard for blood to flow properly. In PCH, abnormal small blood vessels grow out of control inside the lung tissue. These two conditions are closely related and often overlap, which is why they are grouped together. Both lead to a dangerous rise in blood pressure inside the lungs, a condition called pulmonary arterial