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Disease Profile

Idiopathic pulmonary hemosiderosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

E83.1+ J99.8*

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Lung Diseases

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]

Symptoms

The classic symptoms associated with idiopathic pulmonary hemosiderosis include hemoptysisanemia, 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]

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.

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

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]

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]

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.

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

    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.

      References

      1. Napchan GD and Talmaicu I. Hemosiderosis. Medscape. January 14, 2015; https://emedicine.medscape.com/article/1002002-overview.
      2. 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/.
      3. 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/.
      4. Schwarz MI. Idiopathic Pulmonary Hemosiderosis. Merck Manual. February 2017; https://www.merckmanuals.com/professional/pulmonary-disorders/diffuse-alveolar-hemorrhage-and-pulmonary-renal-syndrome/idiopathic-pulmonary-hemosiderosis.
      5. Pulmonary Hemosiderosis. Online Mendelian Inheritance in Man. February 1, 1996; https://omim.org/entry/178550.
      6. Milman N, King TE, and Hollingsworth H. Idiopathic pulmonary hemosiderosis. UpToDate. January 26, 2017; https://www.uptodate.com/contents/idiopathic-pulmonary-hemosiderosis.
      7. 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.
      8. 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. https://www.respiratorycasereports.com/article/S1755-0017(09)00098-0/pdf.

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