IDIOPATHIC PULMONARY HEMOSIDEROSIS IN A DOWN SYNDROME PATIENT

Abstract

SESSION TITLE: Fellows Diffuse Lung Disease Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: October 18-21, 2020 INTRODUCTION: Idiopathic Pulmonary Hemosiderosis (IPH) is a rare disease found primarily in children characterized by recurrent episodes of diffuse alveolar hemorrhage. The exact etiology and pathogenesis of IPH is unknown. Patients with Down Syndrome have a higher risk of developing pulmonary hemosiderosis. Additionally, in this population IPH manifests more severely. CASE PRESENTATION: Patient is 25 months old ex 36-week female with history of Trisomy 21, Atrial septal defect (ASDs) who has had a history of recurrent hemoptysis, anemia, and pulmonary infiltrates. Patient underwent extensive work-up including bronchoscopy and lung biopsy with the final diagnosis of Idiopathic Pulmonary Hemosiderosis (IPH). The patient presented to our PICU with acute alveolar hemorrhage and severe anemia secondary to RSV pneumonia and IPH recurrence despite being on maintenance therapy of prednisone and hydroxychloroquine. Patient required advanced respiratory support and was treated with a short course of pulse steroids. Patient eventually was placed on Azathioprine instead of Hydroxychloroquine with an increased Prednisone maintenance dose. DISCUSSION: IPH generally occurs in children below the age of 10 years, most commonly from 1 to 7 years. The classical triad of anemia, hemoptysis, and pulmonary infiltrates is a distinguishing characteristic of this disease; however, any one of them could be the initial manifestation. The estimated prevalence of IPH reaches 1.85 per 1,000,000 children, compared to 138.5 per 1,000,000 children with Down Syndrome. Patients with Down Syndrome tend to present earlier and more severely; they experience more dyspnea at diagnosis, more frequent secondary pulmonary hypertension (PAH), and an increased risk of fatal evolution. Systemic glucocorticoids are the mainstay of therapy for acute alveolar hemorrhage due to IPH. In a prior series of 23 children with IPH, low-dose oral prednisone was associated with prolonged survival compared with historical controls. In another series of 17 patients, long-term glucocorticoid therapy was associated with a five-year survival of 86 percent. The duration of corticosteroid treatment was variable among the patients based on clinical, radiological (alveolar infiltrates), and biological (hemoglobin, reticulocytes) evolution. Currently, there are no definitive guidelines directing use or choice of steroid-sparing medications in IPH; however, a few case reports describe the use of an immunosuppressant (cyclophosphamide, hydroxychloroquine, mycophenolate mofetil, azathioprine) in conjunction with oral glucocorticoids in the setting of respiratory failure. CONCLUSIONS: Additional studies investigating different therapeutic options are critical in order to reduce overall morbidity & mortality, particularly in children with Down Syndrome who are more predisposed to IPH relapse. Reference #1: Dr. Inderpal Randhawa Reference #2: Dr. Bugsu Ovunc Reference #3: Dr. Cyrus Shahriary DISCLOSURES: No relevant relationships by Yaron Fireizen, source=Web Response No relevant relationships by Nastasia Nianiaris, source=Web Response No relevant relationships by Inderpal Randhawa, source=Web Response No relevant relationships by Cyrus Shahriary, source=Web Response No relevant relationships by Dibanni Vasquez, source=Web Response