Living with PULMONARY ALVEOLAR MICROLITHIASIS
A rare genetic lung condition in which tiny calcium phosphate stones build up in the air sacs of the lungs.
Understanding PULMONARY ALVEOLAR MICROLITHIASIS
These deposits gradually damage the air sacs and nearby lung tissue and cause breathing problems. It is usually diagnosed before age 40, often when imaging is done for other reasons. It typically worsens slowly over many years, though some people stay stable for long periods. Deposits can also form in other organs, such as the kidneys and gallbladder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shortness of breath, especially with activity
- Dry cough that lingers
- Chest pain
- Tiredness
- Low oxygen with activity
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 SLC34A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Interstitial Lung Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Children's Interstitial Lung Disease Foundation
- 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 Children's Interstitial Lung Disease Foundation
- 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 SLC34A2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alveolar microlithiasis; pam - pulmonary alveolar microlithiasis
Patient organizations
- Children's Interstitial Lung Disease FoundationPULMONARY ALVEOLAR MICROLITHIASIS · United States
You are more than your diagnosis
Perspectives from people navigating life with PULMONARY ALVEOLAR MICROLITHIASIS.
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