Kyriakou D, Kouroumalis E, Konsolas J, Oekonomaki H, Tzardi M, Kanavaros P, Manoussos O, Eliopoulos G D
Department of Pathology, University of Crete School of Medicine, University Hospital of Heraklion, Greece.
Am J Gastroenterol. 1998 Jan;93(1):106-8. doi: 10.1111/j.1572-0241.1998.106_c.x.
Four patients with systemic mastocytosis, two men and two women, are presented. Three of them (patients 1, 2, and 4) developed portal hypertension and ascites without histological evidence of cirrhosis in liver biopsy. The remaining patient (patient 3) had severe bone lesions with multiple vertebral fractures. None of the patients had skin or lymph node involvement. Two patients (patients 1 and 2) died 12 and 9 months after diagnosis with acute nonlymphocytic leukemia and overt mastocytic leukemia, respectively, while the other two (patients 3 and 4) are alive 58 and 14 months after diagnosis. Treatment with hydroxyurea or cytosine arabinoside had not any beneficial effect in two patients, while a substantial amelioration of back pain had been obtained by local irradiation and recombinant human interferon-alpha-2b administration in one patient (patient 3). All patients had laboratory findings compatible with autoimmune cholangitis. We concluded that systemic mastocytosis is a rare cause of noncirrhotic portal hypertension often simulating autoimmune cholangitis and leading to the erroneous diagnosis of liver cirrhosis. Diagnosis is based on the presence of mast cells in Giemsa-stained liver histological sections, and it may be confirmed by immunohistochemical detection of tryptase in the cytoplasm of these abnormally proliferating cells.
本文报告了4例系统性肥大细胞增多症患者，其中2例男性，2例女性。他们中有3例（患者1、2和4）出现门静脉高压和腹水，肝活检无肝硬化的组织学证据。其余1例患者（患者3）有严重的骨病变并伴有多处椎体骨折。所有患者均无皮肤或淋巴结受累。2例患者（患者1和2）分别在诊断为急性非淋巴细胞白血病和明显的肥大细胞白血病后12个月和9个月死亡，而另外2例（患者3和4）在诊断后58个月和14个月仍存活。羟基脲或阿糖胞苷治疗对2例患者无任何有益效果，而1例患者（患者3）通过局部放疗和重组人干扰素α-2b治疗后背痛明显改善。所有患者的实验室检查结果均符合自身免疫性胆管炎。我们得出结论，系统性肥大细胞增多症是非肝硬化门静脉高压的罕见原因，常类似自身免疫性胆管炎并导致肝硬化的误诊。诊断基于吉姆萨染色的肝脏组织切片中肥大细胞的存在，可通过对这些异常增殖细胞胞质中的类胰蛋白酶进行免疫组化检测来确诊。
