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. The body is able to remove most of the blood from the lungs, but a large amount of iron is often left behind. Over time, this iron can cause permanent damage to the lungs. Signs and symptoms usually occur after chronic blood loss or blood in the lungs. Symptoms can include coughing, difficulty breathing, and wheezing, resembling pneumonia. Affected individuals who do not have a large amount of pulmonary bleeding can do well, while others with large amounts of bleeding may only live for a few years. The cause of this condition is currently unknown.^[1]

Last updated: 1/29/2013

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the respiratory system	-
Autosomal recessive inheritance	-
IgA deficiency	-

Last updated: 9/1/2016

Treatment Treatment

The treatment of idiopathic pulmonary hemosiderosis is aimed at managing acute crises and providing long-term therapy. Acute therapies may include oxygen supplementation, blood transfusion, supportive respiratory therapy, mechanical ventilatory support, extracorporeal membrane oxygenation and immunosuppressive therapy. The use of immunosuppressive therapy for long-term management remains controversial.^[2]

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

Last updated: 7/6/2011

Prognosis Prognosis

The clinical course of idiopathic pulmonary hemosiderosis varies widely. Overall, the prognosis is poor, with a mean survival of 2.5 to 5 years following diagnosis. Death may result from acute massive hemorrhage or from progressive pulmonary insufficiency and right heart failure. Treatment does not appear to greatly improve survival. One study noted the following:^[2]

The severity of the disease at onset did not correlate with the outcome,
Females survive longer than males,
Younger individuals exhibit a less favorable prognosis, and
Common therapies did not affect outcome.

Another study of children with idiopathic pulmonary hemosiderosis found that the presence of antineutrophil cytoplasmic antibodies or other autoantibodies translated to a poor prognosis.^[2]

Last updated: 7/6/2011

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 studying or have studied Idiopathic pulmonary hemosiderosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

Financial Resources

Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.

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 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What is the prognosis for individuals affected by idiopathic pulmonary hemosiderosis? Will a cure become available? Can the disease become terminal? See answer