Case Presentation: A 3-year-old female presented with 1-day of fatigue, pallor, dyspnea and dry cough. Vital signs showed HR 152, RR 28, temp 98.8 F, BP 101/67, and oxygen saturation of 75% on room air. On exam, she was well appearing, with clear lungs and no respiratory distress despite the desaturations. Initial testing showed a hemoglobin of 5.9, MCV of 83.9, platelets of 581, total bilirubin of 3.6. A chest x-ray showed diffuse opacities concerning for pulmonary edema versus pneumonia. Ceftriaxone was given and packed red blood cells transfused. She was airlifted to a tertiary care ED, where she was noted to have a HR 148, RR 50, and oxygen saturation of 65% with significant respiratory distress, wheezing, and intercostal retractions. She was placed on a 10L non-rebreather. CBC showed WBC 21.1, Hgb 7.6, and MCV 86, with a reticulocyte count of 6.4, LDH 1060, and negative coombs. She was transferred to the ICU. Further history revealed a 6-month history of anemia of unknown etiology associated with jaundice and other indicators of hemolysis, requiring frequent transfusions. Hematology was following and work up was thus far inconclusive. She also had 2 prior diagnosed episodes of pneumonia and was on intermittent inhaled steroids. On hospital day 2, she was weaned to 6L simple mask and transferred to the pediatric floor. Shortly thereafter, she developed retractions, tachypnea, diffuse crackles, hypoxia, and wheezing. She was placed on 15 liter non-rebreather and transferred back to the ICU. Chest x-ray demonstrated worsened diffuse opacities. She was placed on HHFNC at 20L and 60% Fi02. Her repeat hemoglobin was 6.1. Pulmonology was consulted for bronchoscopy which revealed bloody airway secretions consistent with diffuse alveolar hemorrhage (DAH). Cytology showed hemosiderin laded macrophages which confirmed the finding. Rheumatology was consulted and ruled out other causes of DAH. She was diagnosed with idiopathic pulmonary hemosiderosis (IPH) and systemic steroids were initiated. Her symptoms improved and she was discharged on oral steroids. At 1-year follow up, she remains on oral steroids with no further complications of IPH.
Discussion: Idiopathic pulmonary hemosiderosis is a rare disease that primarily affects children and is characterized by recurrent episodes of diffuse alveolar hemorrhage of unknown etiology. The classic triad is iron deficiency anemia, hemoptysis, and radiographic diffuse lung infiltrates. However, children rarely have these symptoms, often presenting only with dyspnea and anemia. The diagnosis is supported by a combination of clinical signs and symptoms, testing consistent with the diagnosis and ruling out alternate causes. The presence of hemosiderin-laden alveolar macrophages on bronchoalveolar lavage (BAL) or lung biopsy specimens confirms the diagnosis. Corticosteroids have been shown to shorten the duration of a hemorrhagic attack. Delayed diagnosis is common due to variability in presentation and can eventually lead to respiratory insufficiency, irreversible pulmonary fibrosis, heart failure and death. This patient presented initially to medical attention with evidence consistent with hemolytic anemia which delayed diagnosis. Her previous episodes of pneumonia were likely prior episodes of IPH.
Conclusions: Pneumonia and anemia are common diagnoses in pediatrics. While IPH is rare, it must be considered in children who present with symptoms of pneumonia and associated anemia, especially in patients with recurrent pneumonia and anemia that requires transfusion.