Living with Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
A rare genetic lung condition in which fatty-protein material builds up in the lungs' air sacs, with breathing trouble and sometimes liver disease.
Understanding Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Lipoprotein material builds up in the lungs' air sacs and leads to stiff lungs. Children have trouble breathing, fast breathing, cough, poor weight gain, and clubbed fingers. Liver disease has been described in some, including an enlarged liver and scarring.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble breathing
- Low blood oxygen
- Poor weight gain (failure to thrive)
- Lung scarring (pulmonary fibrosis)
- Enlarged liver and liver disease
- Anemia and low thyroid function
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 digestive system specialists, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in MARS1 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
The PAP Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: The PAP 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 The PAP 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
It is caused by changes in the MARS1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hereditary pulmonary alveolar proteinosis with hepatic involvement; interstitial lung and liver disease; pap, reunion island type; pulmonary alveolar proteinosis reunion island type; pulmonary alveolar proteinosis, reunion island; pulmonary alveolar proteinosis, reunion island type
Patient organizations
- The PAP FoundationSevere early-onset pulmonary alveolar proteinosis due to MARS deficiency · United States
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