Nallamilli Susanna, O'Neill Aideen, Wilson Andrew, Sekhar Mallika, Lambert Jonathan
Haematology, University College London Hospitals NHS Foundation Trust, London, UK.
BMJ Case Rep. 2019 Aug 30;12(8):e229967. doi: 10.1136/bcr-2019-229967.
Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient's symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.
系统性肥大细胞增多症是由异常肥大细胞克隆的增殖和激活引起的。它是一种异质性疾病，临床表现从仅出现皮肤病变到侵袭性多器官浸润以及生存率降低不等。鉴于这些多样的表现，诊断可能会很困难。我们描述了一名女性患者的病例，她出现皮疹和腹泻，并有过敏反应病史。在很长一段时间里，该患者的症状由包括胃肠病学、皮肤病学、免疫学和血液学在内的多个专科进行了检查。对骨髓样本进行的形态学、免疫组织化学和分子分析最终确诊为系统性肥大细胞增多症。使用白三烯和组胺拮抗剂进行治疗使症状和生活质量得到了显著改善。该病例有助于突出系统性肥大细胞增多症的多变表现、用于诊断它的检查方法以及可用于治疗它的药物。
