Diffuse Lung Disease: Student/Resident Case Report Poster - Diffuse Lung Disease |

58-Year-Old-Woman With Worsening Shortness of Breath and a Genetic Mutation FREE TO VIEW

Nimisha Parikh; Gary Drizin, MD; Claudio Dourado, MD; Simran Randhawa, MD; Thaer Obaid, MD; Alisan Fathalizadeh, MD; Grace Song, MD; Doraid Jarrar, MD
Author and Funding Information

Einstein Healthcare Network, Philadelphia, PA

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):535A. doi:10.1016/j.chest.2016.08.549
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SESSION TITLE: Student/Resident Case Report Poster - Diffuse Lung Disease

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Worsening shortness of breath and dry cough are key symptoms of interstitial lung disease (ILD), a heterogeneous group of more than 100 inflammatory and fibrotic disorders. Some forms are manifestation of systemic illness, whereas others, such as idiopathic pulmonary fibrosis, are confined to the lung parenchyma. Diagnostic work up entails history and physical, high-resolution computed tomography of the chest, and often surgical biopsy. Treatment options for ILD range from empiric steroids to more specific anti-fibrotic drugs and ultimately lung transplantation in select patients.

CASE PRESENTATION: A 58 year old woman with chief complaint of worsening shortness of breath and dry cough and past medical history of mild diastolic heart failure, hypertension, obesity and obstructive sleep apnea was admitted to the hospital for exacerbation of symptoms. She was hospitalized 6 months prior for similar symptoms when she was diagnosed with COPD exacerbation and was placed on oral steroids which mildly improved her symptoms. Patient is a former smoker of 2.5 packs per day for 30 years. Pulmonary function tests showed lung volumes and diffusion capacities within reference range. Spirometry showed mild restriction with improvement in vital capacity and FEV1 after aerosol treatment, not supporting the sole diagnosis of COPD. Chest CT showed diffuse interlobular septal thickening with upper lobe predominant ground glass attenuation, mild traction bronchiectasis. Imaging also showed pericardial thickening and mild fusiform ectasia of the descending thoracic aorta with mild thickening of the peri-aortic fat. Surgical lung biopsy was performed of the right upper and middle lobe. Results showed histiocytic infiltrates in a lymphangitic pattern with associated fibrosis, as seen with Erdheim Chester disease (ECD). Molecular Markers confirmed BRAF mutation. Nuclear bone scan was subsequently performed and showed scattered areas of abnormal uptake in the maxilla, orbits, tibias, and right forearm consistent with Erdheim-Chester syndrome or polyostotic sclerosing histiocytosis.

DISCUSSION: Erdheim Chester Disease is a rare form of non-Langerhans histiocytosis. Treatment options include corticosteroids, cyclosporine interferon-α, and chemotherapy. Recently, it was discovered that about 50% of patients have an actionable mutation, i.e., a point mutation of the BRAF gene. Vemurafenib, a tyrosine kinase inhibitor has shown dramatic response rates in ECD. Our patient has so far shown a favorable response.

CONCLUSIONS: ILD continues to present a diagnostic challenge and treatment algorithms are evolving. Survival for ILD can be dismal and new medications show some promise. Here we present a rare case of ECD with an actionable mutation that is responsive to a specific protein kinase inhibitor.

Reference #1: Diamond E, Dagna L, Hyman D et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124(4):483-492.

DISCLOSURE: The following authors have nothing to disclose: Nimisha Parikh, Gary Drizin, Claudio Dourado, Simran Randhawa, Thaer Obaid, Alisan Fathalizadeh, Grace Song, Doraid Jarrar

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