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.
Idiopathic pulmonary hemosiderosis (IPH) is a rare lung disease, mostly affecting children under 10 years old. “Idiopathic” means the cause is not yet known, “pulmonary” refers to involvement of the lungs, and “hemosiderosis” refers to the deposition of ‘hemosiderin’, 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:
– Coughing with blood (hemoptysis)
– Shortness of breath (dyspnea)
– Long, unrelenting cough
– Anemia (due to bleeding in the lungs and Iron deficiency)
– Chest pain
– Failure to thrive (deficient growth)
– 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.
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:
Steroids—These medications may control bleeding into the lungs and scarring that happens afterward.
Immunosuppressants– 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 transfusions– Replacing the blood lost due to lung bleeding may help the symptoms of anemia.
Stem cell transplant—This experimental therapy uses the body’s own stem cells to modulate the immune system and prevent bleeding.
Extracorporeal membrane oxygenation (ECMO)—This 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 transplant—This is a final resort for severe IPH. IPH may recur in the transplanted lung, but few lung transplant cases have been reported.
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Idiopathic Pulmonary Hemosiderosis Facebook Group: https://www.facebook.com/IPH.Community/?ref=br_rs
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