کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2863810 1573183 2011 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Polycythemia From Mast Cell Activation Syndrome: Lessons Learned
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Polycythemia From Mast Cell Activation Syndrome: Lessons Learned
چکیده انگلیسی
A middle-aged woman presented with fatigue and mild increases in hematocrit and red cell mass. Polycythemia vera was diagnosed. She underwent therapeutic phlebotomy but clinically worsened. On reevaluation, other problems were noted including episodic malaise, nausea, rash and vasomotor issues. The JAK2V617F mutation was absent; paraneoplastic erythrocytosis was investigated. Serum tryptase and urinary N-methylhistamine were normal, but urinary prostaglandin D2 was elevated. Skin and marrow biopsies showed no mast cell abnormalities. Extensive other evaluation was negative. Gastrointestinal tract biopsies were histologically normal but revealed increased, aberrant mast cells on immunohistochemistry; the KITD816V mutation was absent. Mast cell activation syndrome, recently identified as a clonal disorder involving assorted KIT mutations, was diagnosed. Imatinib 200 mg/d rapidly effected complete, sustained response. Diagnosis of mast cell activation syndrome is hindered by multiple factors, but existing therapies for mast cell disease are usually achieve significant benefit, highlighting the importance of early diagnosis. Multiple important aspects of clinical reasoning are illustrated by the case.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The American Journal of the Medical Sciences - Volume 342, Issue 1, July 2011, Pages 44-49
نویسندگان
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