Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder

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Overview

Primary interstitial lung disease due to alveolar vascular disorder is a rare lung condition that can affect both children and adults. In this disease, the tiny blood vessels (capillaries) within the air sacs (alveoli) of the lungs do not develop or function properly. This disrupts the normal exchange of oxygen and carbon dioxide, which is essential for breathing. The condition falls under a broader group of diseases called interstitial lung diseases (ILDs), which cause scarring or inflammation in the lung tissue between the air sacs. Patients with this condition may experience progressive shortness of breath, low oxygen levels in the blood, rapid breathing, and difficulty exercising or performing daily activities. In infants and young children, symptoms may include poor growth, feeding difficulties, and bluish discoloration of the skin (cyanosis). In adults, the disease may present more gradually with worsening breathlessness and reduced exercise tolerance. Treatment options are limited and largely supportive. Supplemental oxygen therapy is commonly used to maintain adequate blood oxygen levels. In severe cases, lung transplantation may be considered. Some patients may be trialed on medications that target inflammation or blood vessel abnormalities, but there is no universally effective cure. The rarity of this condition means that management is often guided by expert opinion at specialized centers rather than large clinical trials.

Also known as:

Key symptoms:

Shortness of breathLow oxygen levels in the bloodRapid breathingBluish skin color (cyanosis)Difficulty exercising or being activeChronic coughPoor growth in childrenFeeding difficulties in infantsFatigue and low energyClubbing of the fingers or toesPulmonary hypertension (high blood pressure in the lungs)Recurrent respiratory infections

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder.

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No actively recruiting trials found for Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder at this time.

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No specialists are currently listed for Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder.

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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.What specific type of alveolar vascular disorder does my child or I have, and is there a genetic cause?,What tests will be needed to monitor the disease over time?,Are there any medications that could help slow the progression of the disease?,At what point should lung transplantation be considered?,What should I watch for that would require emergency medical attention?,Are there clinical trials or research studies that we could participate in?,Should other family members be tested for this condition?

Common questions about Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder

What is Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder?

Primary interstitial lung disease due to alveolar vascular disorder is a rare lung condition that can affect both children and adults. In this disease, the tiny blood vessels (capillaries) within the air sacs (alveoli) of the lungs do not develop or function properly. This disrupts the normal exchange of oxygen and carbon dioxide, which is essential for breathing. The condition falls under a broader group of diseases called interstitial lung diseases (ILDs), which cause scarring or inflammation in the lung tissue between the air sacs. Patients with this condition may experience progressive sh