Desmond Daniel H, Carmichael Mark G
Tripler Army Medical Center, Department of Medicine, Honolulu, HI (DHD).
Tripler Army Medical Center, Division of Hematology-Oncology, Honolulu, HI (MGC).
Hawaii J Med Public Health. 2018 Feb;77(2):27-29.
Mastocytosis is a rare process involving the activation and accumulation of clonal mast cells categorized by cutaneous or systemic involvement. Although the diagnosis of cutaneous disease can be straightforward and confirmed via skin biopsy, systemic disease mimics more common disease processes making diagnosis a challenge. The widespread physiologic distribution of mast cells causes a variety of symptoms with aberrant expression including fatigue, headache, depression, dyspnea, dyspepsia, nausea, and abdominal pain. We present a patient with a three-year history of multiple, non-specific complaints prompting extensive evaluation at significant financial and emotional cost without therapeutic relief. This case presentation illustrates some of the pitfalls of evaluation and management of mastocytosis when symptoms are treated in isolation. Ultimately, our patient was diagnosed with indolent systemic mastocytosis (ISM), which has a good overall prognosis but no curative treatment. Providers must maintain a high index of suspicion for mastocytosis in order to make the diagnosis and facilitate appropriate treatment and screening.
肥大细胞增多症是一种罕见的病症，涉及克隆性肥大细胞的激活和积聚，可分为皮肤型或系统型。虽然皮肤疾病的诊断可以通过皮肤活检直接确诊，但系统型疾病与更常见的疾病过程相似，这使得诊断成为一项挑战。肥大细胞广泛的生理分布会导致各种症状，并伴有异常表达，包括疲劳、头痛、抑郁、呼吸困难、消化不良、恶心和腹痛。我们介绍一位患者，有三年多种非特异性症状的病史，为此进行了广泛评估，付出了巨大的经济和情感代价，但未得到治疗缓解。该病例展示了孤立地治疗症状时，肥大细胞增多症评估和管理中的一些陷阱。最终，我们的患者被诊断为惰性系统性肥大细胞增多症（ISM），其总体预后良好，但尚无治愈性治疗方法。医疗人员必须对肥大细胞增多症保持高度怀疑指数，以便做出诊断并促进适当的治疗和筛查。
