系统性淀粉样变消化道受累患者的临床特征

Clinical characteristics of patients with systemic amyloidosis involved in digestive tract

目的探讨系统性淀粉样变消化道受累患者的临床特点和内镜下表现。方法回顾性分析并比较北京协和医院1991年12月至2004年12月(1991至2004年诊断组,18例)和2009年3月17日至2020年11月4日(2009至2020年诊断组,47例)伴消化道症状的系统性淀粉样变患者的临床和内镜下特征、活体组织检查(以下简称活检)部位和阳性情况等。采用独立样本t检验、Mann-Whitney U检验和卡方检验进行统计学分析。结果2009至2020年诊断组47例患者中,41例为原发性轻链型淀粉样变患者,其发病年龄高于1991至2004年诊断组[(57.15±9.10)岁比(50.75±10.90)岁],诊断时距起病时间短于1991至2004年诊断组[(13.48±11.72)个月比(26.38±23.02)个月],差异均有统计学意义(t=2.08、-2.13,P=0.048、0.047)。消化道症状首发患者诊断时距起病时间与非消化道症状首发患者比较[10.5个月(6.0个月,17.3个月)比14.0个月(5.8个月,25.0个月)]差异无统计学意义(P>0.05)。2009至2020年诊断组原发性轻链型淀粉样变患者中,体重减轻为最常见的临床症状,占87.8%(36/41);其次为消化道出血,其中18例(43.9%)患者粪便隐血试验阳性,4例(9.8%)表现为黑便或鲜血便。病理证实的消化道受累内镜下表现多样,表现为黏膜出血、渗血4例,黏膜质脆、触之易出血3例,4例表现为消化道黏膜隆起,黏膜隆起处活检结果均为阳性。齿龈、舌体活检操作例数较多,活检阳性率≥60.0%;15例患者完成直肠黏膜活检,6例刚果红染色阳性;分别有3、6例完成心肌和肾脏活检,其中阳性例数分别为2、4例。结论体重减轻、消化道出血为原发性轻链型淀粉样变常见的消化道症状,黏膜出血、质脆、隆起为常见和典型的内镜下表现,经验性多部位活检有助于尽早诊断和治疗。

Objective To study the clinical characteristics and endoscopic manifestations of patients with systemic amyloidosis involved in digestive tract.Methods Clinical and endoscopic features,biopsy locations and positive rate of patients with systemic amyloidosis involved in digestive tract at Peking Union Medical College Hospital from December,1991 to December,2004(1991 to 2004 diagnosed group,18 cases)and from March 17th,2009 to November 4th,2020(2009 to 2020 diagnosed group,47 cases)were retrospectively analyzed and compared.Independent sample t test,Mann-Whitney U test and chi-square test were used for statistical analysis.Results Among 47 patients in 2009 to 2020 diagnosed group,41 were primary amyloid light chain(AL)amyloidosis,and the age of onset was older than that of 1991 to 2004 diagnosed group((57.15±9.10)years old vs.(50.75±10.90)years old),and the time from disease onset to diagnosis was shorter than that of 1991 to 2004 diagnosed group((13.48±11.72)months vs.(26.38±23.02)months),and the differences were statistically significant(t=2.08 and-2.13,P=0.048 and 0.047).There was no significant difference in time from disease onset to diagnosis between patients with gastrointestinal manifestations at disease onset and patients without gastrointestinal manifestations at disease onset(10.5 months(6.0 months,17.3 months)vs.14.0 months(5.8 months,25.0 months),P>0.05).Among primary AL amyloidosis patients in 2009 to 2020 diagnosed group,weight loss was the most common clinical symptom,the proportion of patients was 87.8%(36/41);secondary was gastrointestinal bleeding,among which 18 patients(43.9%)were stool occult blood test positive and 4 patients(9.8%)were with melena or bloody stool.The endoscopic features of patients with biopsy-confirmed digestive tract involvemen vary,including mucosa hemorrhage and oozing of blood in 4 cases,fragile mucosa and easy to bleed in 3 cases,and 4 cases with bulged mucosa and all the 4 cases of biopsy at bulged mucosa was positive.Gingiva and tongue were the most common biopsy locations and the positive rate of biopsy was≥60.0%.Rectal mucosa biopsy was performed in 15 patients and 6 were Congo red staining positive.Heart or kidney biopsy was performed in 3 and 6 patients,and the number of positive cases was 2 and 4,respectively.Conclusions Weight loss and gastrointestinal bleeding are the common gastrointestinal symptoms of primary AL amyloidosis.The common endoscopic manifestations included mucosal bleeding,fragile and bulged mucosa.Biopsy at multiple locations according to experience may help earlier diagnosis and treatment.