Abstract Introduction Idiopathic pulmonary hemosiderosis (IPH) is characterized by recurrent episodes of diffuse alveolar hemorrhage, without an identifiable etiology. Pathogenesis is likely autoimmune with a genetic component. It manifests with hemoptysis, radiologic chest infiltrates, and iron deficiency anemia. However, absence of this constellation in the majority often delays the diagnosis. Here, we present a case of an adolescent with chronic fatigue and recurrent spontaneous pneumothorax ultimately diagnosed with IPH. Case description 17-year-old male with Tourette syndrome, was referred to our tertiary center for evaluation of chronic fatigue, left side spontaneous pneumothorax s/p chest tube insertion and incidental lung nodules in left lower lobe, lingula and right lower lobe with mild diffuse ground glass opacities. Extensive workup was ordered to rule out anemia, autoimmune vasculitis, connective tissue diseases, aspergillosis, tuberculosis, histoplasmosis, blastomycosis, alpha one antitrypsin deficiency, immunodeficiency and immunoglobulin subclass 4-associated diseases. He only had an elevated serum IgE level of 1073; however, clinical presentation wasn’t consistent with hyper IgE syndrome. Interstitial lung disease panel was ordered; it was denied, however, by insurance. He had a recurrent pneumothorax after his initial clinic visit four times requiring chest tube insertion. A repeat chest CT showed a new cavitary lesion in the left lower lobe (Figure A) for which he had an IR biopsy and showed possible pulmonary hemosiderosis (Figure C & D). Additional workup was ordered to rule out Goodpasture syndrome, Celiac disease, occult blood in stool and iron deficiency anemia. The serum ferritin level was low, though normal or high ferritin level is more characteristic of IPH. Flexible bronchoscopy with BAL confirmed the diagnosis of pulmonary hemosiderosis (Figure E, F & G). Since he fell into the category of non-life threatening diffuse alveolar hemorrhage, we started him on prednisone 60 mg/day for 8 weeks as outpatient. His repeat chest CT showed significant improvement (Figure B) in addition to complete resolution of the symptoms above after treatment. A very extended tapering of 5 mg every other week was started until a daily maintenance dose of 15 mg was attained with a plan to repeat CT every 6 months. As of submitting this, he was tolerating corticosteroid treatment well and no alternative medication was added. If he remains asymptomatic for 12-18 months, steroid will be slowly tapered off and eventually discontinued. Discussion IPH is a rare disease, sometimes having unusual presentation, requiring thorough work-up to achieve an early and specific diagnosis. This abstract is funded by: None
Rashed et al. (Fri,) studied this question.