Freudenthaler Sophie, Hegenbart Ute, Schönland Stefan, Behrens Hans-Michael, Krüger Sandra, Röcken Christoph
Department of Pathology, Christian-Albrechts-University, Arnold-Heller-Str. 3, Haus 14, 24105, Kiel, Germany.
Medical Department V, Amyloidosis Center, University of Heidelberg, Heidelberg, Germany.
Virchows Arch. 2016 May;468(5):569-77. doi: 10.1007/s00428-016-1916-y. Epub 2016 Feb 25.
In this retrospective observational study, we investigated the histopathological and demographic characteristics of amyloid in gastrointestinal biopsies. From the Amyloid Registry Kiel, we retrieved all cases with amyloid in biopsies of the stomach, duodenum, small intestine, large intestine, and rectum submitted for tertiary referral between January 2003 and April 2013. Amyloid was identified by Congo red staining in combination with polarization microscopy and classified by immunohistochemistry. The TTR-genotype was assessed in 56 patients. Amyloid type was correlated with demographic patient characteristics. Six hundred sixty-three biopsies from 542 patients were retrieved. Amyloid was found in each biopsy as vascular and/or interstitial amyloid deposits. Biopsies were obtained from the colon [254 biopsies (38.3 %)], stomach, [153 (23.1 %)], rectum [112 (16.9 %)], duodenum [105 (15.8 %)], and jejunum/ileum [39 (5.9 %)]. ALλ amyloid was found in 286 (52.8 %), ATTR in 88 (16.2 %), ALκ in 74 (13.7 %), AA in 58 (10.7 %), and ApoAI amyloid in 4 (0.7 %) patients. The remaining 21 cases were ALys amyloid in 4 (0.7 %), AL n.o.s. in 14 (2.6 %), and mixed type amyloidosis in 3 (0.6 %). The amyloid of 11 (2.0 %) cases remained unclassified. The median age of the patients was 68 years. Men [332 (61.7 %)] were significantly more prevalent than women [206 (38.3 %); p < 0.001]. TTR mutations were found in 24 % of the patients with ATTR amyloidosis. The median age, the histoanatomical distribution (proximal to distal; mucosal to submucosal), and the deposition pattern (vascular/interstitial) varied between different amyloid types. Amyloid in gastrointestinal biopsies mainly affects male elderly patients and shows amyloid-type-specific demographic patient characteristics.
在这项回顾性观察研究中,我们调查了胃肠道活检组织中淀粉样蛋白的组织病理学和人口统计学特征。从基尔淀粉样蛋白登记处,我们检索了2003年1月至2013年4月间因三级转诊而提交的胃、十二指肠、小肠、大肠和直肠活检组织中含有淀粉样蛋白的所有病例。通过刚果红染色结合偏振显微镜鉴定淀粉样蛋白,并通过免疫组织化学进行分类。对56例患者评估了TTR基因型。淀粉样蛋白类型与患者的人口统计学特征相关。共检索到542例患者的663份活检组织。在每份活检组织中均发现淀粉样蛋白为血管性和/或间质淀粉样蛋白沉积。活检组织取自结肠[254份活检组织(38.3%)]、胃[153份(23.1%)]、直肠[112份(16.9%)]、十二指肠[105份(15.8%)]和空肠/回肠[39份(5.9%)]。286例(52.8%)患者发现ALλ淀粉样蛋白,88例(16.2%)发现ATTR淀粉样蛋白,74例(13.7%)发现ALκ淀粉样蛋白,58例(10.7%)发现AA淀粉样蛋白,4例(0.7%)患者发现载脂蛋白AI淀粉样蛋白。其余21例中,4例(0.7%)为ALys淀粉样蛋白,14例(2.6%)为未特指的AL淀粉样蛋白,3例(0.6%)为混合型淀粉样变性。11例(2.0%)病例的淀粉样蛋白仍未分类。患者的中位年龄为68岁。男性[332例(61.7%)]的患病率显著高于女性[206例(38.3%);p<0.001]。在24%的ATTR淀粉样变性患者中发现了TTR突变。不同类型淀粉样蛋白之间的中位年龄、组织解剖学分布(近端至远端;黏膜至黏膜下)和沉积模式各不相同。胃肠道活检组织中的淀粉样蛋白主要影响老年男性患者,并表现出淀粉样蛋白类型特异性的患者人口统计学特征。