Overview
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease where tiny calcium-phosphate stones, called microliths, slowly build up inside the tiny air sacs (alveoli) of the lungs. Over time, these deposits make it harder for the lungs to do their job of moving oxygen into the blood. The disease is caused by changes (mutations) in a gene called SLC34A2, which normally helps the lungs clear phosphate. When this gene does not work properly, phosphate builds up and forms stone-like deposits throughout the lung tissue. Many people with PAM have no symptoms for years or even decades, especially in childhood and early adulthood. The disease is often discovered by accident on a chest X-ray, which shows a striking 'sandstorm' pattern caused by the thousands of tiny stones. As the disease progresses, people may develop a chronic cough, shortness of breath during activity, and eventually low oxygen levels even at rest. The lungs can become stiff and scarred over time, a process called fibrosis. There is currently no approved medication that can stop or reverse the buildup of microliths. Treatment focuses on managing symptoms, supporting breathing, and monitoring lung function over time. In the most severe cases, when the lungs can no longer support life, lung transplantation may be considered. PAM is also sometimes called pulmonary microlithiasis or alveolar microlithiasis. Because it progresses slowly and silently, early diagnosis through genetic testing and regular monitoring is very important.
Key symptoms:
Chronic dry coughShortness of breath, especially during physical activityLow oxygen levels in the bloodFatigue and reduced exercise toleranceChest tightness or discomfortClubbing of the fingers (fingertips become rounded and enlarged)Crackling sounds in the lungs heard through a stethoscopeBluish tint to the lips or fingertips (cyanosis) in advanced diseaseLung stiffness and scarring (fibrosis) over timeRight-sided heart strain due to lung disease (cor pulmonale) in late stages
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare disorder potentially indicated for lung transplant.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare disorder potentially indicated for lung transplant at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Rare disorder potentially indicated for lung transplant.
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 Rare disorder potentially indicated for lung transplant.
Community
No community posts yet. Be the first to share your experience with Rare disorder potentially indicated for lung transplant.
Start the conversation →Latest news about Rare disorder potentially indicated for lung transplant
No recent news articles for Rare disorder potentially indicated for lung transplant.
Follow this condition to be notified when news becomes available.
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.How advanced is my lung disease right now, and how quickly do you expect it to progress?,Should my siblings and children be tested for the SLC34A2 gene change?,Are there any clinical trials or experimental treatments I might be eligible for?,At what point would you recommend I be evaluated for a lung transplant?,What can I do — such as pulmonary rehabilitation or avoiding certain environments — to protect my lung function?,How often should I have lung function tests and CT scans to monitor my condition?,Are there any medications I should avoid that could make my lung disease worse?
Common questions about Rare disorder potentially indicated for lung transplant
What is Rare disorder potentially indicated for lung transplant?
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease where tiny calcium-phosphate stones, called microliths, slowly build up inside the tiny air sacs (alveoli) of the lungs. Over time, these deposits make it harder for the lungs to do their job of moving oxygen into the blood. The disease is caused by changes (mutations) in a gene called SLC34A2, which normally helps the lungs clear phosphate. When this gene does not work properly, phosphate builds up and forms stone-like deposits throughout the lung tissue. Many people with PAM have no symptoms for years or even decades, especially
How is Rare disorder potentially indicated for lung transplant inherited?
Rare disorder potentially indicated for lung transplant follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.