Pulmonary Hemosiderosis and Fibrosis in Trisomy 21

Pulmonary Hemosiderosis and Fibrosis in Trisomy 21

Pediatrics SESSION TITLE: Fellow Case Report Poster- Pediatrics SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 25, 2016 at 0...

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Pediatrics SESSION TITLE: Fellow Case Report Poster- Pediatrics SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

Pulmonary Hemosiderosis and Fibrosis in Trisomy 21 Brandon Seay MD* Robert Smith MD Silvia Delgado-Villalta MD; and Mutasim Abu-Hasan MD University of Florida College of Medicine, Middleburg, FL INTRODUCTION: Interstitial lung disease (ILD) in the pediatric population is a rare occurrence (<1 in 100,000). Patients at risk for autoimmune disorders, such as those with Trisomy 21 are at risk for ILD. This makes ILD an important consideration in the care of Trisomy 21 patients who develop unexplained respiratory symptoms, such as our case. CASE PRESENTATION: The patient is an 11 year old African American female with Trisomy 21, Type 1 diabetes (DM1), and hypothyroidism. At 2 years old she had a cerebrovascular accident (CVA) and had a hemoglobin of 2.1 g/dL. She was diagnosed with iron deficiency anemia, needed intermittent blood transfusions, and also had intermittent hemoptysis with viral infections. Patient presented again at age 9 with pneumonia. A 6 minute walk evaluation showed an oxygen need of 0.5 liters per minute (lpm). At a follow up pulmonary visit her oxygen need had increased to 2 lpm. Chest computed tomography (CT) demonstrated bilateral ground glass opacities throughout (image1). After being lost to follow up for 6 months she presented with hemoptysis, respiratory distress and pulmonary hypertension. Echocardiogram showed her pulmonary artery pressure as 60% of systemic pressures. Chest CT showed worsening bilateral lung opacities. An extensive rheumatologic and infectious disease work up revealed no clear etiology. Lung biopsy was deferred due to severe pulmonary hypertension. She was treated empirically with 3 monthly courses of pulse doses of steroids. After treatment she showed mild clinical improvement with decreasing oxygen need and improvement of her pulmonary hypertension, therefore we proceeded with a diagnostic open lung biopsy. Pathology revealed diffuse interstitial fibrosis, abundant hemosiderin laden macrophages, and focal interstitial and alveolar hemorrhage without evidence of vasculitis, leading to a diagnosis of idiopathic pulmonary hemosiderosis DISCUSSION: Her history of a CVA, anemia, hemoptysis, and pneumonia argues that intermittent pulmonary hemorrhage caused her lung fibrosis. An autoimmune process is likely given her autoimmune disease history and positive response to steroids; however her biopsy did not show vasculitis.


CONCLUSIONS: This case illustrates the importance of considering idiopathic pulmonary hemosiderosis in Trisomy 21 patients with unexplained respiratory symptoms Reference #1: Bush A, et al; chILD-EU Collaboration. European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax. 2015 Nov;70(11):1078-84. DISCLOSURE: The following authors have nothing to disclose: Brandon Seay, Robert Smith, Silvia Delgado-Villalta, Mutasim Abu-Hasan No Product/Research Disclosure Information DOI:


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