Amyloidosis of the gastrointestinal tract: a 13-year, single-center, referral experience
Amyloidosis of the gastrointestinal tract: a 13-year, single-center, referral experience
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DOI：
10.3324/haematol.2012.068155
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发表时间：
2013-01-01
期刊：
影响因子：
10.1
通讯作者：
Sanchorawala, Vaishali
中科院分区：
文献类型：
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作者：
Cowan, Andrew J.;Skinner, Martha;Sanchorawala, Vaishali
摘要胃肠道淀粉样变，经活组织检查证实，是一种罕见的疾病。我们回顾了一系列经活检证实的胃肠道淀粉样变性患者，并报告了他们的临床特征、治疗和生存率。这是一项对1998年1月至2011年12月在三级转诊中心前瞻性收集的数据的回顾性审查;在此期间对2，334例所有类型的淀粉样变性患者进行了评价。76例患者（3.2%）活检证实淀粉样蛋白累及胃肠道。他们的中位年龄为61岁（范围，34-79岁）。60例（79%）患者存在以胃肠道受累为主的系统性淀粉样变性，而其他16例（21%）患者的淀粉样变性局限于胃肠道，无相关浆细胞恶液质或其他器官受累的证据。在60例系统性病例中，50例（83%）有免疫球蛋白轻链，5例（8%）有家族性溶菌酶，3例（5%）有野生型甲状腺素运载蛋白，2例（3%）有突变型甲状腺素运载蛋白淀粉样变性。所有患者最常见的症状是体重减轻33例（45%）和消化道出血27例（36%）。在常规内镜监测中偶然发现淀粉样变性在7例全身免疫球蛋白轻链患者和4例免疫球蛋白轻链局限于胃肠道患者的诊断中发挥了作用。淀粉样蛋白亚型进行了12例局部疾病，所有λ轻链疾病。在50例系统性免疫球蛋白轻链淀粉样变性患者中，45例接受了抗浆细胞治疗。这一组尚未达到中位生存期。对于16例局限性胃肠道淀粉样变性患者，支持性治疗是治疗的主要手段;没有患者接受抗浆细胞治疗。所有16例患者均存活，中位随访时间为36个月（范围：1-143）。经活检证实的胃肠道淀粉样变性患者常表现为体重减轻和出血。在局部病例中，所有进行分型的病例均为λ轻链淀粉样变性，在随访期间均未进展为全身性疾病。大多数全身性疾病患者具有免疫球蛋白轻链，并且他们对治疗的耐受性和中位生存期极好。尽管淀粉样变性是一种罕见的表现，但对于患有不明原因的慢性胃肠道症状并接受胃肠道活检的患者，应考虑进行淀粉样蛋白染色。
Amyloidosis of the gastrointestinal tract, with biopsy-proven disease, is rare. We reviewed a series of patients who presented with biopsy-proven gastrointestinal amyloidosis and report their clinical characteristics, treatments, and survival. This is a retrospective review of data prospectively collected from January 1998 to December 2011 in a tertiary referral center; 2,334 patients with all types of amyloidosis were evaluated during this period. Seventy-six patients (3.2%) had biopsy-proven amyloid involvement of the gastrointestinal tract. Their median age was 61 years (range, 34-79). Systemic amyloidosis with dominant gastrointestinal involvement was present in 60 (79%) patients, whereas the other 16 (21%) patients had amyloidosis localized to the gastrointestinal tract without evidence of an associated plasma cell dyscrasia or other organ involvement. Of the 60 systemic cases, 50 (83%) had immunoglobulin light-chain, five (8%) had familial lysozyme, three (5%) had wild-type transthyretin, and two (3%) had mutant transthyretin amyloidosis. The most frequent symptoms for all patients were weight loss in 33 (45%) and gastrointestinal bleeding in 27 (36%). Incidental identification of amyloidosis on routine endoscopic surveillance played a role in the diagnosis of seven patients with systemic immunoglobulin light-chain, and four patients with immunoglobulin light-chain localized to the gastrointestinal tract. Amyloid protein subtyping was performed in 12 of the cases of localized disease, and all had lambda light chain disease. Of the 50 patients with systemic immunoglobulin light-chain amyloidosis, 45 were treated with anti-plasma cell therapy. The median survival has not been reached for this group. For the 16 patients with localized gastrointestinal amyloidosis, supportive care was the mainstay of treatment; none received anti-plasma cell therapy. All 16 are alive at a median follow-up of 36 months (range, 1-143). Patients with biopsy-proven gastrointestinal amyloidosis often present with weight loss and bleeding. In localized cases, all that underwent typing were due to lambda light chain amyloidosis and none progressed to systemic disease during the period of follow-up. Most patients with systemic disease had immunoglobulin light-chain, and their tolerance of therapy and median survival were excellent. Although a rare manifestation of amyloidosis, staining for amyloid should be considered in patients undergoing gastrointestinal biopsy who have unexplained chronic gastrointestinal symptoms.