Living with Pulmonary venoocclusive disease
A rare condition in which the veins that carry blood from the lungs to the heart become blocked, causing high lung artery pressure.
Understanding Pulmonary venoocclusive disease
A buildup of fibrous tissue narrows the small veins in the lungs. Pressure then rises in the lung arteries, which is called pulmonary arterial hypertension. It can begin at any age, and blood flow problems worsen over time. CT scans can show features of the condition.
Signs & symptoms
Symptoms vary from person to person. GARD says the most common are:
- Shortness of breath, especially with activity
- Tiredness (fatigue)
- Dizziness and lack of energy
- Trouble breathing when lying down
- A cough that doesn't go away
- Bluish skin, chest pain, or fainting as it worsens
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in EIF2AK4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Phaware Global Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the EIF2AK4 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: pulmonary capillary hemangiomatosis; pulmonary veno-occlusive disease; pvod
Patient organizations
- Phaware Global AssociationPulmonary venoocclusive disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Pulmonary venoocclusive disease.
Explore research for Pulmonary venoocclusive disease
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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