Pulmonary Manifestations of Systemic Disease: Systemic Disease |

Pulmonary Involvement of Systemic Mastocytosis FREE TO VIEW

Jaymica Patel, MD; Ching-Fei Chang, MD
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University of Southern California, North Hollywood, CA

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

Chest. 2016;149(4_S):A468. doi:10.1016/j.chest.2016.02.487
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SESSION TITLE: Systemic Disease

SESSION TYPE: Case Report Poster

PRESENTED ON: Sunday, April 17, 2016 at 11:45 AM - 12:45 PM

INTRODUCTION: Systemic mastocytosis is a rare hematologic disorder caused by infiltration of excessive mast cells throughout the body. The commonly involved organs are the skin, GI tract, and bone marrow. Based on our literature search, pulmonary involvement has only been reported eight times, with even fewer confirmed histopathologically. We present a patient with systemic mastocytosis and impressive thoracic manifestations.

CASE PRESENTATION: A 68-year-old male otherwise healthy ex-smoker presented with a history of pruritus and abdominal pain for 1.5 years. During the workup, a liver biopsy demonstrated extensive mast cell infiltration. He also received chest imaging which revealed randomly-distributed pulmonary micronodules and cysts with mediastinal lymphadenopathy. Subsequent bronchoscopic biopsy showed submucosal infiltration of mast cells in the airways and parenchyma. In addition, EBUS-TBNA showed lymphoid tissue with mast cells and a non-necrotizing granuloma. He then underwent bone marrow biopsy demonstrating similar findings, and was started on peg-α-interferon therapy for a diagnosis of systemic mastocytosis.

DISCUSSION: Mastocytosis is a rare myeloproliferative neoplasm attributed to a codon-816 c- kit mutation leading to increased number of clonal mast cells throughout the body. The median age at diagnosis is 55 with a male predominance. Five subtypes of the disease are recognized. The most common form (80-90% of cases) only involves the skin, and presents as urticaria and intense pruritus. 1 Three other subtypes are associated with various lymphoid malignancies and bone marrow disorders.2 The rarest form is systemic mastocytosis and presents as multi-organ disease. However, pulmonary involvement is uncommon and most case reports have been based on classic radiographic findings of cystic and nodular lesions in the lung with mediastinal adenopathy.1-3 Some patients may develop an asthma-like condition due to hyperhistaminemia. Unfortunately, there is no cure for this disease and the goal of treatment is symptom relief. Interferon and chemotherapy can be tried in aggressive or refractory cases.

CONCLUSIONS: Pulmonary mastocytosis is exceedingly rare but should be considered in the differential diagnosis of a pruritic patient who presents with mediastinal adenopathy and diffuse randomly-distributed cysts and nodules. Although this disorder has traditionally been a radiographic diagnosis, we believe proof can also be obtained safely and easily with EBUS-TBNA if transbronchial biopsies in cystic areas are of concern. We present a rare case confirmed by histopathologic evidence of mast cell infiltration in both lung and mediastinal lymph nodes.

Reference #1: Huang et al. Radiological features of systemic mast cell disease. BJR. 1987;60:765-770

Reference #2: Kelly et al. HRCT appearance of systemic mastocytosis involving the lungs. J Thoracic Imaging. 2004;19:52-55

Reference #3: Schmidt et al. Pulmonary manifestations of systemic mast cell disease. Eur Respir J. 2000;15:623-625

DISCLOSURE: The following authors have nothing to disclose: Jaymica Patel, Ching-Fei Chang

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