Idiopathic pulmonary hemosiderosis is a rare disease that causes recurrent diffuse alveolar hemorrhage with no detectable underlying disorder; it occurs mainly in children < 10 years. In patients with idiopathic pulmonary hemosiderosis, repeated alveolar bleeding can eventually result in pulmonary hemosiderosis and fibrosis.
The exact population prevalence is largely unknown due to its rarity and presentation primarily in children, in whom representative studies are lacking. In one systematic review of adults with the disease, the median age at diagnosis was 34 years, and there was an approximately 2-fold male predominance (1).
The disease is thought to be due to a defect in the alveolar capillary endothelium, possibly due to autoimmune injury. Many affected patients also have celiac disease.
General reference
1. Chen XY, Sun JM, Huang XJ: Idiopathic pulmonary hemosiderosis in adults: review of cases reported in the latest 15 years. Clin Respir J. 2017;11(6):677-681. doi:10.1111/crj.12440
Symptoms and Signs of Idiopathic Pulmonary Hemosiderosis
Symptoms and signs of idiopathic pulmonary hemosiderosis in children include recurrent episodes of dyspnea and cough, particularly nonproductive cough initially. Hemoptysis occurs later. Children with idiopathic pulmonary hemosiderosis may present with only growth and weight faltering (failure to thrive) and iron deficiency anemia. The most common symptoms in adults are exertional dyspnea and fatigue due to pulmonary hemorrhage and iron deficiency anemia.
Diagnosis of Idiopathic Pulmonary Hemosiderosis
Chest imaging (radiographs or CT)
Bronchoalveolar lavage
Rarely, lung biopsy
Idiopathic pulmonary hemosiderosis is considered a diagnosis of exclusion because it is, by definition, diagnosed only when no other underlying cause of diffuse alveolar hemorrhage may be found. Chest imaging (radiography or CT scan) may be obtained, which may show diffuse pulmonary infiltrates. Diagnosis involves demonstration of a combination of characteristic clinical findings (eg, hemoptysis and diffuse pulmonary infiltrates), iron deficiency anemia, and hemosiderin-laden macrophages in bronchoalveolar lavage (BAL) fluid or lung biopsy specimens plus no evidence of small-vessel vasculitis (pulmonary capillaritis) or another explanatory diagnosis.
Diagnosis is confirmed by lung biopsy if other findings are inconclusive.
Treatment of Idiopathic Pulmonary Hemosiderosis
Glucocorticoids
Immunosuppressants are the treatment of choice for idiopathic pulmonary hemosiderosis (1). Glucocorticoids may reduce the morbidity and mortality of acute episodes of alveolar bleeding and may control the disease progression to pulmonary fibrosis. Some patients may require additional immunosuppressants (eg, cyclophosphamide, azathioprine) to improve treatment outcomes. ). Glucocorticoids may reduce the morbidity and mortality of acute episodes of alveolar bleeding and may control the disease progression to pulmonary fibrosis. Some patients may require additional immunosuppressants (eg, cyclophosphamide, azathioprine) to improve treatment outcomes.
Patients who also have celiac disease should be on a gluten-free diet.
Treatment reference
1, Saha BK, Milman NT: Idiopathic pulmonary hemosiderosis: a review of the treatments used during the past 30 years and future directions. Clin Rheumatol. 2021;40(7):2547-2557. doi:10.1007/s10067-020-05507-4
Drugs Mentioned In This Article
