Autoimmune pulmonary alveolar proteinosis

Title

Other Names:

PAP; Pulmonary alveolar lipoproteinosis acquired; PAP acquired; PAP; Pulmonary alveolar lipoproteinosis acquired; PAP acquired; Pulmonary alveolar proteinosis autoimmune; Pulmonary alveolar proteinosis acquired; Acquired pulmonary alveolar proteinosis See More

Categories:

Lung Diseases

Summary Summary

Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare autoimmune lung disorder. It is the most common form (90% of the cases) of pulmonary alveolar proteinosis (PAP). Most cases affect adults between the ages of 20-50 years. Some people may not show symptoms, while others may have progressive difficulty breathing and shortness of breath upon exertion. Other signs and symptoms may include a dry, chronic cough; fatigue; weight loss; chest pain; and a general feeling of ill health. In rare cases, coughing up of blood, rounding and swelling of the tips of the fingers, and cyanosis may be present.^[1] Autoimmune PAP is caused by an immune system malfunction, due to IgG antibodies that block the granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) effect. GM-CSF is a protein that regulates clearance of surfactant (a mix of protein and fat) by alveolar macrophages. The surfactant pile up in the air sacs of the lungs (alveoli), and eventually lead to an inability to breath.^[1]^[2] The standard treatment is a procedure called lung lavage. A drug called GM-CSF might effectively treat aPAP.^[2]

Other PAP forms include congenital PAP, a very rare form that occurs in some newborns, caused by disorders of surfactant production; hereditary PAP, where people are born with genetic mutations that destroy the function of the proteins (receptors) on alveolar macrophages that interact with GM-CSF; and, secondary PAP, which occur in people with another disease or dust exposure.^[1]^[2]

Last updated: 1/27/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Intraalveolar phospholipid accumulation		0006517
30%-79% of people have these symptoms
Abnormal circulating protein level		0010876
Abnormality of the upper respiratory tract	Upper respiratory tract issues	0002087
Autoimmune antibody positivity		0030057
Clubbing	Clubbing of fingers and toes	0001217
Cyanosis	Blue discoloration of the skin	0000961
Decreased DLCO		0045051
Dyspnea	Trouble breathing	0002094
Foam cells		0003651
Hypoxemia	Low blood oxygen level	0012418
Increased lactate dehydrogenase level		0025435
Restrictive ventilatory defect	Stiff lung or chest wall causing decreased lung volume	0002091
5%-29% of people have these symptoms
Cough	Coughing	0012735
Crackles		0030830
Crazy paving pattern on pulmonary HRCT		0025391
1%-4% of people have these symptoms
Anti-granulocyte-macrophage colony stimulating factor antibody positivity		0020050
Brain abscess		0030049
Chest pain		0100749
Fatigue	Tired Tiredness [ more ]	0012378
Fever		0001945
Hemoptysis	Coughing up blood	0002105
Inspiratory crackles		0031996
Lung abscess		0025044
Weight loss		0001824
Percent of people who have these symptoms is not available through HPO
Insidious onset	Gradual onset	0003587
Pneumonia		0002090
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Sporadic	No previous family history	0003745

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

The treatment of PAP varies from case to case depending upon the form of PAP and the age of an affected individual and severity of the disease. About one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission).

Patients with moderate or severe respiratory problems due to autoimmune PAP can be treated by a whole lung lavage, a procedure in which one lung is cleansed with a salt solution while the other is pumped with pure oxygen. In some cases, the procedure may need to be performed once; in others it may need to be repeated many times over several years.^[1] Generally, one lung is lavaged in the first procedure, followed by lavage of the opposite lung one to two weeks later.^[1]^[3]

A treatment using recombinant granulocyte macrophage-colony stimulating factor (GM-CSF) given by nose, or with a subcutaneous injection is not approved for use in autoimmune PAP yet, but soon may be an effective option.^[1]^[3]^[4]

Lung transplantation has been used to treat adults with PAP as a last resort. According to the medical literature, in some cases, PAP has recurred in adults who have received lung transplantation.^[1]

Treatment options for patients with secondary and hereditary PAP are less clear and depend in part on the specific cause. In secondary PAP, removal and avoidance of the causative agent (e.g., silica exposure) or treatment of the underlying disorder may improve symptoms.^[1] For neonates with severe congenital PAP, lung transplantation is the only treatment that appears to improve outcome.^[4]^[5]

Last updated: 1/27/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are related to Autoimmune pulmonary alveolar proteinosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Pulmonary Alveolar Proteinosis Foundation
3333 Burnet Avenue
CCRF R4029
Cinncinnati, OH 45229-3039
Telephone: (844) CURE-PAP FAX: (513) 636-3723
Fax: (513) 636-3723
E-mail: info@papfoundation.org
Website: https://www.papfoundation.org/

Social Networking Websites

A Yahoo Group is available for pulmonary alveolar proteinosis. You can connect with others through this forum. GARD does not monitor their messages, so please use your own discretion when using this group.

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
A page For Individuals with PAP is available from the PAP Foundation. This page covers frequently asked questions about the condition. Please note: this organization appears to be inactive, so the page may not be kept up-to-date.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune pulmonary alveolar proteinosis. Click on the link to view a sample search on this topic.

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GARD Answers GARD Answers

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My brother-in-law has been diagnosed with this. What are the most common treatments or drugs for this condition? They plan to lavage the lungs. He has a history of chronic smoking. See answer

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