Idiopathic pulmonary hemosiderosis

Title

Other Names:

Hemosiderosis, pulmonary, with deficiency of gamma-a globulin; Alveolar hypoventilation syndrome; Pulmonary hemosiderosis

Categories:

Lung Diseases

Summary Summary

Idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis). Symptoms can resemble pneumonia and include coughing, coughing up blood (hemoptysis), difficulty breathing, and wheezing.^[1]

The cause of idiopathic pulmonary hemosiderosis is unknown. Diagnosis is based on ruling out other kinds of pulmonary hemosiderosis, and tests may include imaging, laboratory tests, and a lung biopsy.^[1] Treatment often includes corticosteroids or other immunosuppressive medications.^[2] The prognosis may vary depending on the amount of pulmonary bleeding and age of diagnosis.^[1]

Last updated: 9/5/2017

Symptoms Symptoms

The classic symptoms associated with idiopathic pulmonary hemosiderosis include hemoptysis, anemia, and the collection of substances such as iron in the lungs (pulmonary infiltrates).^[2] Other symptoms associated with the disease may include coughing, wheezing, difficulty breathing, weakness, fatigue, and a limited ability to exercise. When the disease occurs in children, they may not grow as quickly as they should.^[1]

For some people, signs and symptoms of idiopathic pulmonary hemosiderosis begin suddenly, while for others the progression of the disease may be slower. For most, signs and symptoms begin between the age of 1-7 years, but signs and symptoms can begin at any age of life from childhood through adulthood.^[3]

Last updated: 9/5/2017

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Hemoptysis	Coughing up blood	0002105
Iron deficiency anemia		0001891
Pulmonary fibrosis		0002206
Recurrent intrapulmonary hemorrhage	Recurrent bleeding into lungs	0006535
Respiratory insufficiency	Respiratory impairment	0002093
Transient pulmonary infiltrates		0005828

Showing of 7 |

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

Last updated: 12/1/2020

Cause Cause

The exact cause of idiopathic pulmonary hemosiderosis is not well-understood. The term "idiopathic" means that there is not a known cause of a disease. Some researchers suspect that the disease is caused by damage to the capillaries (small blood vessels) of the alveoli (small air sacs in the lungs). It is not known exactly what causes the capillaries to become damaged, but it could be due to an autoimmune response.^[4]

When the capillaries of the alveoli are damaged, blood may collect in the alveoli. While the body can expel most of the collection of blood in the lungs, the frequent bleeds leave behind deposits of iron in storage complexes known as hemosiderin.^[1] This accumulation of iron leads to the development of anemia because the blood does not have enough iron. Additionally, the deposits can cause damage to the lungs (pulmonary fibrosis).^[1]

Last updated: 9/5/2017

Inheritance Inheritance

There is not a single gene that is known to cause idiopathic pulmonary hemosiderosis. In most cases, there are not multiple affected individuals in a family. However, more than one family member having idiopathic pulmonary hemosiderosis has been reported in some families.^[1]^[5] In some cases, people who have idiopathic pulmonary hemosiderosis are reported to have family members with other types of autoimmune diseases.^[3] Most autoimmune diseases are thought to be caused by a combination of genetic and environmental factors.

Last updated: 9/5/2017

Diagnosis Diagnosis

Idiopathic pulmonary hemosiderosis is typically diagnosed by a combination of laboratory tests, imaging, and sometimes a lung biopsy.^[1]^[2] Diagnosis of the disease is based on ruling out other possible causes of the symptoms, including other types of pulmonary hemosiderosis. The diagnosis of idiopathic pulmonary hemosiderosis may include procedures such as:^[1]

Complete blood count
Analysis of blood serum for antibodies that could indicate other conditions
Chest x-ray
CT scan
Pulmonary function testing
Lung biopsy

Last updated: 9/5/2017

Treatment Treatment

The treatment of idiopathic pulmonary hemosiderosis is aimed at managing acute crises and providing long-term therapy. Potential therapies may include:^[1]

Oxygen supplementation
Blood transfusion
Supportive respiratory therapy
Mechanical ventilation
Immunosuppressive therapy, especially corticosteroids

Some individuals with idiopathic pulmonary hemosiderosis may also have celiac disease. For these individuals, a gluten-free diet is recommended in addition to other therapies.^[6]

More detailed information about the treatment of idiopathic pulmonary hemosiderosis can be accessed through Medscape. Click on the following links to learn more about Treatment & Management and Medications.

Last updated: 9/5/2017

Prognosis Prognosis

The clinical course of idiopathic pulmonary hemosiderosis varies widely, and it is hard to predict how long symptoms will last. Treatment of the disease may help to alleviate symptoms. Potential factors that could influence the long-term outlook include:^[1]

Gender: females tend to have a better prognosis then men
Age at diagnosis: individuals who were older when they were diagnosed may have a better prognosis

In general, the severity of the disease at the original diagnosis does not necessarily correlate with the time associated with survival. Some people who have idiopathic pulmonary hemosiderosis eventually achieve complete remission.^[2] Adults who have the disease are likely to have a better prognosis in terms of the severity of symptoms and the survival time.^[6]^[7] Adults may also have a better response to treatment, especially corticosteroids.^[8] Potential complications of the disease that may be life-threatening include acute massive hemorrhage, progressive pulmonary insufficiency, and right heart failure.^[1]

Last updated: 9/5/2017

Statistics Statistics

Idiopathic pulmonary hemosiderosis is very rare, but exact prevalence numbers are not known. It is estimated that somewhere between 0.24 and 1.26 in one million people are affected by the disease.^[3]

Last updated: 12/31/2017

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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

ClinicalTrials.gov lists trials that are related to Idiopathic pulmonary hemosiderosis. 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.

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

Children's Interstitial Lung Disease Foundation
6539 Harrison Ave #1045
Cincinnati, OH 45247
E-mail: info@child-foundation.org
Website: http://child-foundation.org/
Pulmonary Fibrosis Foundation
230 East Ohio Street, Suite 340
Chicago, IL 60611
Toll-free: 1-844-825-5733 (844.TalkPFF)
Telephone: +1-312-587-9272
Fax: 1-866-587-9158
E-mail: pcc@pulmonaryfibrosis.org
Website: https://www.pulmonaryfibrosis.org

Social Networking Websites

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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.

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 Merck Manual for health care professionals provides information on Idiopathic pulmonary hemosiderosis.
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 Idiopathic pulmonary hemosiderosis. Click on the link to view a sample search on this topic.

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References References

Napchan GD and Talmaicu I. Hemosiderosis. Medscape. January 14, 2015; http://emedicine.medscape.com/article/1002002-overview.
Chin CIC, Kohn SL, Keens TG, Margetis MF, and Kato RM. A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis. Orphanet J Rare Dis. August 20, 2015; 10:98. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545926/.
Taytard J, Nathan N, de Blic J, Fayon M, Epaud R, Deschildre A, Troussier F, Lubrano M, Chiron R, Reix P, Cros P, Mahloul M, Michon D, Clement A, and Corvol H. New insights into pediatric idiopathic pulmonary hemosiderosis: the French RepsiRare cohort. Orphanet Journal of Rare Diseases. 2013; 8:161. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852822/.
Schwarz MI. Idiopathic Pulmonary Hemosiderosis. Merck Manual. February 2017; http://www.merckmanuals.com/professional/pulmonary-disorders/diffuse-alveolar-hemorrhage-and-pulmonary-renal-syndrome/idiopathic-pulmonary-hemosiderosis.
Pulmonary Hemosiderosis. Online Mendelian Inheritance in Man. February 1, 1996; https://omim.org/entry/178550.
Milman N, King TE, and Hollingsworth H. Idiopathic pulmonary hemosiderosis. UpToDate. January 26, 2017; https://www.uptodate.com/contents/idiopathic-pulmonary-hemosiderosis.
Chen XY, Sun JM, and Huang XJ. Idiopathic pulmonary hemosiderosis in adults: review of cases reported in the latest 15 years. The Clinical Respiratory Journal. March 14, 2016; https://www.ncbi.nlm.nih.gov/pubmed/26692115.
Abbdallah Fatma CB, Amel C, Ridha M, Olfa S, Sophia T, Faouzi M, and Ali BK. Idiopathic pulmonary hemosiderosis in adult. Respiratory Medicine CME. 2010; 3(4):238-240. http://www.respiratorycasereports.com/article/S1755-0017(09)00098-0/pdf.