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Last updated: October 05, 2022
Years published: 2022
NORD gratefully acknowledges Gregory Cichon, MD candidate, Creighton School of Medicine and Biplab K Saha, MD, Department of Pulmonary, Critical Care and Sleep Medicine, University of Florida, for the preparation of this report.
Summary
Idiopathic pulmonary hemosiderosis (IPH) is a rare lung disease, mostly affecting children under 10 years old. โIdiopathicโ means the cause is not yet known, โpulmonaryโ refers to involvement of the lungs, and โhemosiderosisโ refers to the deposition of โhemosiderinโ, a storage form of Iron in the human body. Patients with the disease experience bleeding into the lungs, resulting in recurrent episodes of shortness of breath and coughing, often with blood. The ongoing bleeding often leads to iron deficiency anemia, which causes fatigue and lack of growth in children. The disease injures the lungs, leading to inflammation and, in some people, irreversible scarring. Doctors use a flexible scope to access the lungs (bronchoscopy) and perform washing (bronchoalveolar lavage) to make the diagnosis. Sometimes, a lung biopsy could be necessary for a definite diagnosis. There is no known cure for IPH, and the prognosis is highly variable. The survival rate has improved over the past few decades as research and therapies improve. In the past, the average survival had ranged from 2.5 to 5 years after diagnosis. Standard therapies include steroids and immunosuppressants to help control the bleeding into the lungs, blood transfusions to correct the anemia and other supportive measures.
Some patients may not show any symptoms early in the disease, but the most common symptoms include:
โ Coughing with blood (hemoptysis)
โ Shortness of breath (dyspnea)
โ Long, unrelenting cough
โ Anemia (due to bleeding in the lungs and Iron deficiency)
โ Fatigue
โ Fever
โ Chest pain
โ Failure to thrive (deficient growth)
โ Enlarged liver and spleen (hepatosplenomegaly)
The cause of IPH is still not known but it is considered to be an autoimmune disease. Many patients also have celiac disease, another autoimmune disease, and the combination of celiac disease and IPH is known as Lane-Hamilton syndrome. In most patients with Lane-Hamilton syndrome, eliminating gluten from the diet also improved the symptoms of IPH. The autoimmune hypothesis theorizes that the cells responsible for providing immunity are somehow responsible for causing bleeding into the lungs and irreversible scarring over time. Although the exact mechanism is unknown, scientists have hypothesized that the offending agents could be bioactive proteins (such as histamine, ECP or VEGF). When triggered by a yet to be discovered antigen(s), the immune cells are inappropriately activated, causing the release of these factors and prompting bleeding in the lungs.
Some studies also suggest that IPH may have a genetic component because it has been reported in siblings and children of IPH patients. Moreover, patients with Down syndrome could be at a higher risk of developing IPH. Other research suggests there may be an environmental component to the disease, including secondhand smoking and mold exposure. More research is needed to evaluate these hypotheses. Due to the rarity of the disease, research can be difficult and take longer than other, more common diseases.
Approximately 80% of cases occur in children, mostly under 10 years old and 20% of cases occur in adults (majority under 30 years old). IPH may affect more girls than boys and more adult men than women, according to some studies.
Since it is a rare disease, diagnosing IPH involves ruling out all other possible causes of bleeding or scarring in the lungs. This may include various blood tests (iron studies, blood cell counts and antibody levels), sputum tests, imaging (x-rays, CT scans), bronchoscopy and biopsies. A multidisciplinary team is often involved and may include pulmonologists, hospitalists, rheumatologists, respiratory therapists, intensivists and thoracic surgeons. Early recognition and treatment can help avoid serious complications and disease progression. IPH is typically diagnosed using a camera (bronchoscope) that takes samples of the fluid in the lungs, known as a bronchoalveolar lavage. The pulmonologist will also take biopsies of the lungs to confirm the diagnosis under the microscope.
Treatment
The goal of treatment is to suppress this immune response and decrease the damage by preventing repeated bleeding episodes. There is no gold standard treatment for IPH yet. Physicians determine the best therapies based on their experience and available research.
Some commonly accepted therapies include:
SteroidsโThese medications may control bleeding into the lungs and scarring that happens afterward.
Immunosuppressantsโ In addition to steroids, these medications subdue the immune system further and assist in preventing bleeding in the lungs. These drugs may include 6-mercaptopurine/azathioprine, hydroxychloroquine, cyclophosphamide, mycophenolate mofetil or rituximab.
Blood transfusionsโ Replacing the blood lost due to lung bleeding may help the symptoms of anemia.
Stem cell transplantโThis experimental therapy uses the bodyโs own stem cells to modulate the immune system and prevent bleeding.
Extracorporeal membrane oxygenation (ECMO)โThis is a temporary life support system during acute severe bleeding or end-stage lung disease until a lung transplant can be accomplished for appropriate patients.
Lung transplantโThis is a final resort for severe IPH. IPH may recur in the transplanted lung, but few lung transplant cases have been reported.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
JOURNAL ARTICLES
Saha BK, Bonnier A, Saha S, Saha BN and Shkolnik B. Adult patients with idiopathic pulmonary hemosiderosis: a comprehensive review of the literature. Clinical Rheumatology 2022; 1-14.
Saha BK, Chong WH, Saha S, et al. Proposed pathogenesis of diffuse alveolar hemorrhage in idiopathic pulmonary hemosiderosis. Lung 2022; 200: 205โ215. https://doi.org/10.1007/s00408-022-00523-4
Saha BK. Idiopathic pulmonary hemosiderosis: a state of the art review. Respiratory Medicine 2021;176:106234.
Abbdallah Fatma CB, Amel C, Ridha M, Olfa S, Sophia T, Faouzi M, and Ali BK. Saha, B K. Is it time to call idiopathic pulmonary hemosiderosis by the correct name: immune-mediated pulmonary hemosiderosis? The American Journal of the Medical Sciences 2021; 361(6): 809-811.
Saha BK.and Milman N T. Idiopathic pulmonary hemosiderosis: a review of the treatments used during the past 30 years and future directions. Clinical Rheumatology 2021; 40(7): 2547-2557.
Matsumoto S, Nakagawa S.Extracorporeal membrane oxygenation for diffuse alveolar hemorrhage caused by idiopathic pulmonary hemosiderosis: a case report and a review of the literature. J Pediatr Intensive Care 2019; 8(3):181โ186
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. 2016.https://www.ncbi.nlm.nih.gov/pubmed/26692115.
Watanabe H, Ayusawa M, Kato M, et al. Idiopathic pulmonary hemosiderosis complicated by Down syndrome. Pediatrics International 2015; 57(5): 1009-1012.
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. 2015;10:98. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545926/.
Taytard J, Nathan N, de Blic J, et al. 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/.
Ben Abbdallah Fatma C, Amel C, Ridha M, et al. Idiopathic pulmonary hemosiderosis in adult. Respiratory Medicine CME. 2010: 3(4): 238-240. https://www.sciencedirect.com/science/article/pii/S1755001709000980
INTERNET
Milman N, King TE, and Hollingsworth H. Idiopathic pulmonary hemosiderosis. UpToDate. April 7, 2022. https://www.uptodate.com/contents/idiopathic-pulmonary-hemosiderosis.Accessed Oct 4, 2022.
Napchan GD and Talmaicu I. Hemosiderosis. Medscape. Aug 27, 2018. https://emedicine.medscape.com/article/1002002-overview. Accessed Oct 4, 2022.
Pulmonary Hemosiderosis. Online Mendelian Inheritance in Man. February 1, 1996. https://omim.org/entry/178550. Accessed Oct 4, 2022.
Schwarz MI. Idiopathic Pulmonary Hemosiderosis. Merck Manual. Sept 2021. https://www.merckmanuals.com/professional/pulmonary-disorders/diffuse-alveolar-hemorrhage-and-pulmonary-renal-syndrome/idiopathic-pulmonary-hemosiderosis Accessed Oct 4, 2022.
Idiopathic Pulmonary Hemosiderosis Facebook Group: https://www.facebook.com/IPH.Community/?ref=br_rs
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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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