原发性肝淀粉样变性一例

Primary hepatic amyloidosis: one case report

淀粉样变性是以不溶性淀粉样蛋白在血管壁及器官、组织细胞外沉积为特征的一种进行性、预后不良性疾病,可累及心、肝、肾、脾、胃肠、肌肉及皮肤等组织,可分为原发性及继发性。该病早期临床症状隐匿,患者常在发生多脏器损害后就诊,临床上易误诊,诊断主要依赖于病理学检查。原发性淀粉样变性目前无根治方法,主要行对症及支持治疗,常规的治疗方案为MP方案(马法兰联合泼尼松)。该文报道1例原发性肝淀粉样变性患者,其有腹胀、食欲差的症状,肝、脾肿大明显,血碱性磷酸酶及谷胺酰转肽酶升高,有高脂血症、低蛋白血症,蛋白尿明显,蛋白电泳Ig A、γ轻链均阳性,Ig G、Ig M、κ轻链阴性,肝病理学活组织检查及刚果红染色均提示为肝淀粉样变性,因患者无其它基础疾病,故诊断为原发性肝淀粉样变性。确诊后予护肝、调节胃肠功能等处理,患者乏力、食欲差症状较前稍改善,其后患者拒绝接受化学治疗而出院,最终死亡。

Amyloidosis is a progressive disease with poor prognosis,which is characterized as insolu-ble amyloid proteins deposited in vascular walls,organs or tissues,involving in heart,liver,kidney,spleen, stomach and intestine,muscle and skin,etc. It can be divided into primary and secondary amyloidosis. Early clinical symptoms of amyloidosis are reclusive. The patients constantly present with damages of multiple organs upon admission. It is likely to misdiagnose amyloidosis and the diagnosis mainly depends upon pathological ex-amination. No radical treatment of primary amyloidosis is available at present. Symptomatic and supportive therapies are mainly adopted in clinical settings. Combined treatment of melphalan and prednisone is a conven-tional approach. In this article,we reported one case of primary hepatic amyloidosis presenting with abdominal distension,poor appetite,significant hepatosplenomegaly,elevated levels of serum alkaline phosphatase and glutamyltranspeptide,hyperlipidemia hypoalbuminemia,severe albuminuria,positive IgA andγ-light chain and negative IgG,IgM and κ-light chain by protein electrophoresis. Liver pathological biopsy and Congo red stai-ning comfirmed the diagnosis of amyloidosis. Since the patient had no alternative primary diseases,he was eventually diagnosed with primary hepatic amyloidosis. The patient received treatment to protect the liver and regulate gastrointestinal function. The symptoms of hypodynamia and poor appetite were slightly alleviated. Subsequently,the patient refused to receive chemotherapy and was discharged. The patient died finally.