A unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: a case reportReportar como inadecuado




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Journal of Medical Case Reports

, 10:283

First Online: 13 October 2016Received: 29 July 2016Accepted: 12 September 2016DOI: 10.1186-s13256-016-1066-5

Cite this article as: Hermans, M.A.W., Broijl, A. & van Daele, P.L.A. J Med Case Reports 2016 10: 283. doi:10.1186-s13256-016-1066-5

Abstract

BackgroundSystemic 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 presentationIn 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.

ConclusionsTo 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.

KeywordsMastocytosis pulmonary Bronchoalveolar lavage Mast cells Case report AbbreviationsAMLAcute myeloid leukemia

CTComputed tomography

SMSystemic mastocytosis

SM-AHNMDSystemic mastocytosis with associated hematological non-mast-cell lineage disease

MPNMyeloproliferative neoplasia

MDSMyelodysplastic syndrome

TLCTotal lung capacity

FVCForced vital capacity

DLCODiffusing capacity of the lung for carbon monoxide

TL-VACorrected diffusion capacity for alveolar volume

HSCTHematopoietic stem cell transplant

BALBronchoalveolar lavage

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Autor: Maud A. W. Hermans - Annemiek Broijl - Paul L. A. van Daele

Fuente: https://link.springer.com/







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