Background: Systemic mastocytosis is a rare myeloproliferative disease characterized by the uncontrolled proliferation of aberrant mast cells. It has varying clinical manifestations. For unknown reasons, pulmonary localization of mastocytosis is extremely rare. Case presentation: In this report, we describe a case of a young Caucasian female with systemic mastocytosis who had an associated hematological non-mast-cell lineage disease with pulmonary interstitial disease directly related to her mastocytosis. The diagnosis was proven by the presence of mast cells in bronchoalveolar lavage. The treatment of her associated hematological disease (myelofibrosis with myelodysplasia) was hampered by rapidly declining pulmonary function and progressive organ dysfunction due to aggressive systemic mastocytosis. She died approximately 1 year after the diagnosis. Conclusions: To our knowledge, this is the first case in which mast cells were detected in bronchoalveolar lavage. Moreover, to date, only two other cases of pulmonary interstitial disease due to mastocytosis have been published. Juggling therapies for systemic mastocytosis and myelofibrosis is very difficult; however, aggressive therapy for both diseases is essential to give these patients a chance to survive.

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Journal of Medical Case Reports
Department of Internal Medicine

Hermans, M. A. W., Broijl, A., & van Daele, P. (2016). A unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: A case report. Journal of Medical Case Reports, 10(1). doi:10.1186/s13256-016-1066-5