Plummer–Vinson syndrome

Plummer–Vinson syndrome is a rare acquired disorder defined by the triad of iron-deficiency anaemia, painless dysphagia and a thin oesophageal web in the post-cricoid region普卢默-文森综合征是一种罕见的获得性疾病，以缺铁性贫血、无痛性吞咽困难与环后区薄层食管蹼三联征为特征。

It occurs mainly in middle-aged white women and is regarded as a precancerous condition of the upper gastrointestinal tract该病主要发生于中年白人女性，并被视为上消化道癌前状态。

Correction of iron deficiency relieves symptoms in many patients, while persistent webs are treated by endoscopic dilation or incision纠正缺铁可缓解许多患者的症状，持续存在的食管蹼则通过内镜扩张或切开治疗。

Terminology and classification

• The eponym Plummer–Vinson syndrome honours Henry Stanley Plummer and Porter Paisley Vinson of the Mayo Clinic, who reported dysphagia associated with iron deficiency and upper oesophageal dysfunction in 1912 and 1919普卢默-文森综合征这一名称纪念梅奥诊所的亨利·斯坦利·普卢默与波特·佩斯利·文森，他们于1912年和1919年报告了缺铁合并吞咽困难及食管上段功能异常。^[1]
• British laryngologists Donald Ross Paterson and Adam Brown-Kelly independently described proximal oesophageal webs with anaemia in 1919, which is why the alternative eponym Paterson–Kelly syndrome remains in use英国喉科医生唐纳德·罗斯·佩特森与亚当·布朗-凯利在1919年独立描述了近端食管蹼伴贫血，因此帕特森-凯利综合征这一别名沿用至今。^[1]
• Sideropenic dysphagia is the descriptive synonym that links the swallowing disorder to depleted body iron stores rather than to a structural stricture缺铁性吞咽困难这一描述性同义词强调吞咽障碍源于体内铁储备耗竭，而非结构性狭窄。^[2]
• In the World Health Organization ICD-10, the condition is coded D50.1 inside the iron-deficiency anaemia block D50–D53, which separates it from generic oesophageal stricture codes在世界卫生组织《国际疾病分类》第十版中，该病编码为 D50.1，位于缺铁性贫血区块 D50–D53 内，从而与一般性食管狭窄编码区分。^[2]
• The ICD-11 Mortality and Morbidity Statistics release 2025-01 places it at 3A00.Y, an other-specified residual under iron-deficiency anaemia, and Orphanet cross-lists it as ORPHA:54028《国际疾病分类》第十一版 2025-01 死亡与发病统计线性化将其置于 3A00.Y，即缺铁性贫血项下的其他特指残留类目，Orphanet 将其交叉列为 ORPHA:54028。^[2]
• Interoperability mappings include MONDO:0018895, MeSH D011004, MedGen 45967, GARD 0008259, UMLS C0032249 and Wikidata Q31813, which allow the same entity to be retrieved across registries互操作映射包括 MONDO:0018895、MeSH D011004、MedGen 45967、GARD 0008259、UMLS C0032249 与 Wikidata Q31813，使同一实体可在不同登记库中检索。^[2]

History

• Plummer described 91 patients with long-standing iron-deficiency anaemia, dysphagia and upper oesophageal spasm in 1912, although no anatomical stricture was demonstrated in most of them普卢默在1912年报告了91例长期缺铁性贫血、吞咽困难及食管上段痉挛患者，但其中多数未发现解剖性狭窄。^[1]
• Vinson linked the same clinical picture to anaemia in 1919, and Paterson and Kelly in the same year emphasised the association with a proximal oesophageal web文森在1919年将同样的临床表型与贫血联系起来，佩特森与凯利同年强调其与近端食管蹼相关。^[1]
• During the mid-twentieth century the syndrome was common in northern Sweden, where sideropenic anaemia and post-cricoid dysphagia clustered among women with poor nutrition二十世纪中叶该综合征在瑞典北部较为常见，缺铁性贫血与环后区吞咽困难集中于营养状况较差的女性。^[3]
• A 1964 epidemiological study of the Paterson–Kelly syndrome established that the disorder was far more frequent in women than in men and varied markedly by region1964年一项关于帕特森-凯利综合征的流行病学研究确认，该病女性发病率远高于男性，且存在明显地区差异。^[4]
• Swedish data published in 1975 showed that the incidence of Plummer–Vinson syndrome was falling as nutrition and health care improved, while the residual cancer risk persisted in previously affected women1975年发表的瑞典数据显示，随着营养与医疗条件改善，普卢默-文森综合征发病率下降，但既往患病女性的残余癌症风险仍持续存在。^[3]
• The 2006 Orphanet review consolidated the triad, the web morphology and the cancer association, and the 2017 review by Goel and colleagues re-emphasised the global decline of the syndrome2006年 Orphanet 综述系统整理了该三联征、食管蹼形态及癌症关联，2017年 Goel 等的综述再次强调该综合征在全球范围内减少。^[2]

Epidemiology

• Orphanet classifies Plummer–Vinson syndrome as a very rare disease with a prevalence below 1 per 1,000,000 and an adult age of onsetOrphanet 将该综合征归类为极罕见病，患病率低于百万分之一，发病年龄为成人。^[2]
• Most patients are white middle-aged women in the fourth to seventh decade of life, although paediatric and adolescent cases have been reported多数患者为白人中年女性，年龄在四十至七十岁之间，但也有儿童与青少年病例报告。^[2]
• A Swedish screening study of 1,994 men and 2,346 women found post-cricoid webs in 0.3–1.1 per cent of women overall and in 8.4–22.4 per cent of women who reported dysphagia一项纳入1994名男性与2346名女性的瑞典筛查研究发现，环后区食管蹼在全部女性中占0.3%至1.1%，而在报告吞咽困难的女性中占8.4%至22.4%。^[5]
• The prevalence appears to be declining worldwide because of improved nutrition and earlier treatment of iron deficiency, and contemporary series increasingly come from South Asia and from case reports rather than population-based registries由于营养改善与缺铁更早治疗，全球患病率似乎正在下降，当代病例系列越来越多来自南亚与个案报告，而非基于人群的登记研究。^[5]
• Between 3 and 15 per cent of patients with Plummer–Vinson syndrome develop squamous cell carcinoma of the upper oesophagus or hypopharynx, a risk far above the general population约3%至15%的普卢默-文森综合征患者会发生上段食管或下咽鳞状细胞癌，远高于一般人群风险。^[6]
• Oesophageal squamous cell carcinoma accounts for about 90 per cent of the 456,000 incident oesophageal cancers recorded worldwide each year, and the post-cricoid region is a characteristic site in this syndrome全球每年约45.6万例新发食管癌中，食管鳞状细胞癌约占90%，而环后区是本综合征的特征性受累部位。^[7]

Pathophysiology

• Depletion of iron reduces the activity of iron-dependent enzymes such as cytochrome oxidase in the pharyngeal and upper oesophageal mucosa, producing epithelial atrophy and impaired repair铁耗竭降低咽部与食管上段黏膜中细胞色素氧化酶等含铁酶活性，导致上皮萎缩与修复受损。^[5]
• The oesophageal web is a thin, smooth mucosal fold covered by stratified squamous epithelium, usually located on the anterior wall of the post-cricoid region食管蹼是一层薄而光滑的黏膜皱襞，表面覆盖复层鳞状上皮，通常位于环后区前壁。^[2]
• Unlike a peptic stricture, the web does not usually produce a circumferential fibrotic narrowing, so barium studies may show only a shelf-like indentation与消化性狭窄不同，食管蹼通常不形成环周纤维性缩窄，因此钡餐检查可能仅显示棚架样压迹。^[8]
• Dysphagia may arise from the web itself and from disordered pharyngeal-oesophageal coordination, which explains why iron repletion can improve swallowing before the web disappears吞咽困难既可能来自食管蹼本身，也可能来自咽-食管协调障碍，这解释了为何补铁可在蹼消失前改善吞咽。^[2]
• Chronic iron deficiency also causes glossitis, angular cheilitis and koilonychia, and these epithelial changes parallel the mucosal abnormalities seen in the oesophagus慢性缺铁还可引起舌炎、口角炎与反甲，这些上皮改变与食管黏膜异常相互平行。^[5]
• Long-standing mucosal atrophy, impaired DNA repair and coexisting tobacco or alcohol exposure are thought to promote malignant transformation in the post-cricoid and hypopharyngeal epithelium长期黏膜萎缩、DNA 修复受损以及合并烟草或酒精暴露，被认为促进环后区与下咽上皮的恶性转化。^[7]

Clinical features

• The classic presentation is painless dysphagia that is intermittent at first and later becomes progressive, initially affecting solids rather than liquids典型表现为无痛性吞咽困难，起初间歇出现，随后逐渐加重，早期主要影响固体食物而非液体。^[2]
• Anaemia-related fatigue, pallor, exertional dyspnoea and tachycardia may dominate the clinical picture, particularly when dysphagia is mild or attributed to anxiety贫血相关疲乏、面色苍白、活动后气促与心动过速可能成为主要表现，尤其当吞咽困难较轻或被归因于焦虑时。^[5]
• Atrophic glossitis, angular cheilitis and koilonychia are frequent bedside findings that point toward chronic iron deficiency萎缩性舌炎、口角炎与反甲是常见床旁体征，提示慢性缺铁。^[2]
• Splenomegaly and thyroid enlargement have been described in some patients, although neither is required for diagnosis部分患者可见脾大与甲状腺增大，但两者均非诊断必需。^[2]
• Progressive dysphagia can cause weight loss, food avoidance and malnutrition, and aspiration may lead to pneumonia in advanced cases进行性吞咽困难可导致体重下降、回避进食与营养不良，晚期病例可因误吸而发生肺炎。^[8]
• The most serious complication is squamous cell carcinoma of the post-cricoid oesophagus or hypopharynx, which may present with worsening dysphagia, odynophagia, hoarseness or neck mass最严重并发症为环后食管或下咽鳞状细胞癌，可表现为吞咽困难加重、吞咽疼痛、声音嘶哑或颈部肿块。^[6]

Diagnosis

• A complete blood count typically shows microcytic hypochromic anaemia, and a serum ferritin below 15 micrograms per litre confirms depleted iron stores in otherwise healthy adults全血细胞计数通常显示小细胞低色素性贫血，在无其他疾病的成人中血清铁蛋白低于15微克/升可确认铁储备耗竭。^[5]
• Transferrin saturation below 20 per cent and low serum iron support the diagnosis, whereas a ferritin cutoff below 30 micrograms per litre is used when inflammation is present转铁蛋白饱和度低于20%与血清铁降低支持诊断，存在炎症时则采用低于30微克/升的铁蛋白阈值。^[5]
• Barium swallow classically demonstrates a thin anterior web in the post-cricoid region, and cineradiography may be needed to show the functional component of dysphagia钡餐造影典型显示环后区前壁的薄层食管蹼，必要时可用电影透视显示吞咽困难的功能性成分。^[8]
• Upper gastrointestinal endoscopy allows direct visualisation of the web, assessment of its lumen and biopsy of any irregular or ulcerated area to exclude malignancy上消化道内镜可直接观察食管蹼、评估管腔并取材活检任何不规则或溃疡区域以排除恶性肿瘤。^[6]
• The differential diagnosis includes oesophageal carcinoma, peptic stricture, achalasia, eosinophilic oesophagitis, globus pharyngeus and Zenker diverticulum, each of which differs in radiology or endoscopy鉴别诊断包括食管癌、消化性狭窄、贲门失弛缓症、嗜酸性食管炎、癔球症与 Zenker 憩室，各自在影像或内镜下表现不同。^[8]
• In endemic regions and in patients with long-standing symptoms, surveillance endoscopy has been recommended after iron replacement because a web may mask an underlying carcinoma在流行地区及长期症状患者中，建议补铁后行监测性内镜检查，因为食管蹼可能掩盖潜在的恶性肿瘤。^[8]
• There is no validated screening programme for the general population, and testing is targeted at women with unexplained iron-deficiency anaemia plus dysphagia目前没有针对一般人群的经验证筛查方案，检查主要针对不明原因缺铁性贫血合并吞咽困难的女性。^[5]

Management

• Oral iron replacement is first-line therapy, and alternate-day dosing of ferrous sulfate or ferrous fumarate is preferred because it improves absorption and reduces gastrointestinal intolerance口服补铁是一线治疗，硫酸亚铁或富马酸亚铁隔日给药更受推荐，因为它可提高吸收并减少胃肠道不耐受。^[5]
• Parenteral iron, such as ferric carboxymaltose or iron sucrose, is used for severe anaemia, malabsorption, intolerance or poor adherence to oral therapy对于重度贫血、吸收不良、不耐受或口服依从性差者，可使用羧基麦芽糖铁或蔗糖铁等静脉铁剂。^[5]
• Iron repletion alone relieves dysphagia in a substantial proportion of patients, and the response may occur within weeks even before the web resolves radiologically单纯补铁可使相当比例患者的吞咽困难缓解，且反应可能在食管蹼影像学消退前数周内出现。^[8]
• Persistent or severe webs are treated by endoscopic bougie or balloon dilation, and direct web incision with electrosurgery or laser is an alternative for recurrent cases持续存在或严重的食管蹼可采用内镜下探条或球囊扩张，电切或激光直接切开食管蹼是复发病例的替代方案。^[8]
• Nutritional counselling and treatment of coexisting deficiencies are important because many patients have long-standing poor intake and weight loss营养咨询与合并缺乏症的治疗十分重要，因为许多患者存在长期进食不足与体重下降。^[2]
• Surveillance endoscopy at intervals of one to three years has been proposed for patients with persistent webs or dysplasia, although the optimal schedule has never been tested in randomised trials对于持续存在食管蹼或异型增生的患者，有人提出每一至三年行监测性内镜，但最佳间隔从未在随机试验中验证。^[6]
• Tobacco and alcohol cessation is advised because both substantially increase the risk of squamous cell carcinoma in an already abnormal post-cricoid mucosa建议戒烟与限酒，因为两者均会显著增加本已异常的环后黏膜发生鳞状细胞癌的风险。^[7]
• The prognosis for swallowing and anaemia is good with iron replacement and dilation, but the increased cancer risk persists for life and requires continued vigilance经补铁与扩张治疗后，吞咽与贫血预后良好，但癌症风险终身持续存在，需要长期警惕。^[6]

Research and controversies

• Whether the oesophageal web is the cause of dysphagia or a marker of underlying mucosal disease remains debated, because some patients swallow normally after iron repletion while the web persists食管蹼究竟是吞咽困难的原因还是黏膜疾病的标志仍有争议，因为部分患者补铁后吞咽正常而食管蹼仍存在。^[2]
• The striking historical decline of the syndrome in Sweden has been attributed to improved nutrition and iron fortification, but causal attribution is uncertain because multiple social changes occurred together该综合征在瑞典的历史性下降被归因于营养改善与铁强化，但由于多项社会变化同时发生，因果归因并不确定。^[3]
• The mechanism by which iron deficiency produces epithelial atrophy and web formation is incompletely understood, and no animal model reproduces the full human phenotype缺铁导致上皮萎缩与食管蹼形成的机制尚未完全阐明，也没有动物模型能复制完整的人类表型。^[5]
• There are no randomised trials comparing endoscopic dilation, web incision and iron-only management, so treatment decisions rest on case series and expert opinion目前没有比较内镜扩张、食管蹼切开与单纯补铁治疗的随机试验，因此治疗决策依赖病例系列与专家意见。^[8]
• Better biomarkers for malignant transformation and a validated surveillance interval are major unmet needs, particularly in regions where the syndrome is still diagnosed late用于恶性转化的更好生物标志物与经验证的监测间隔是主要未满足需求，尤其是在仍存在晚期诊断的地区。^[6]

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