Plummer Vinson Syndrome

Article Author:
Sandeep Verma
Article Editor:
Sandeep Mukherjee
Updated:
2/20/2019 11:31:00 AM
PubMed Link:
Plummer Vinson Syndrome

Introduction

Plummer-Vinson Syndrome (PVS) presents as a classical triad of dysphagia, iron-deficiency anemia, and esophageal web. It is a rare medical condition and mostly affecting women in the age group of 40 to 70. [1] The affected individuals are at an increased risk of Squamous cell carcinoma of the pharynx and the esophagus.[2] The syndrome is named after two physicians, Henry Stanley Plummer (1874-1936) and Porter Paisley Vinson (1890-1959). The early case reports by Dr.Plummer and Dr.Vinson were patients with long-standing iron deficiency, dysphagia, spasm of the upper esophagus without anatomic stenosis and ‘angulation’ of the esophagus. It is also termed as ‘Paterson-Brown-Kelly syndrome’ after two British laryngologists; Dr.Donald Ross Paterson and Dr. Adam Brown-Kelly, who published similar findings in the year 1919 independently. Dr.Paterson was the first to suggest the association with post-cricoid carcinoma.

Etiology

Even after a century of first reporting the cases, etiology, and pathogenesis of PVS are poorly understood. Iron deficiency anemia is the most widely accepted causal association of PVS. Further, the role of iron deficiency anemia has been studied in the formation of post-cricoid webs.  Deficiency of some B-vitamins has also been suggested as a cause. However, the evidence is weak and inconclusive. Some autoimmune diseases like celiac disease, thyroiditis, rheumatoid arthritis, and Crohn disease have been reported concurrently with PVS.[3][4][5]

Epidemiology

Epidemiological data about incidence and prevalence for Plummer-Vinson syndrome are not widely available. A single population-based study conducted in the 1960s in South Wales assessed the prevalence of post-cricoid webs was 0.3%-1.1% in women overall, and 8.4%-22.4% in women who had preexisting dysphagia, none of the men were found to have the post-cricoid web.[6]

Pathophysiology

The exact pathogenesis of PVS and formation of the esophageal web is not well known. It has been postulated that iron deficiency induces iron-dependent enzyme dysfunction, leading to oxidative stress and DNA damages in epithelia of esophageal mucosa.[2] Repeated injury to epithelia due to iron deficiency leads to atrophy of mucosa and degradation of pharyngeal muscles, leading to the development of esophageal webs[7] The esophageal web is localized below the cricopharyngeal muscle and is asymmetrically attached to the anterior esophageal wall. The esophageal web is a thin mucous membrane, composed of squamous epithelia.[2] Upon biopsy, no inflammatory infiltrates are found[8]. Further, iron deficiency has been reported to cause a decrease in contraction amplitude of esophageal muscle[9]. Role of mucosal inflammation and atrophy especially in the post-cricoid region has been suggested as a factor for the pathogenesis of PVS. The post-cricoid region experiences maximum trauma during swallowing of the solid bolus, leading to increased risk of web formation.[10][11]

Histopathology

Histologically, webs in patients with PVS show fibrosis, epithelial atrophy, epithelial hyperplasia and hyperkeratosis, basal cell hyperplasia and some features of chronic inflammation.[12]

History and Physical

Most patients with Plummer-Vinson syndrome are initially asymptomatic. Plummer-Vinson syndrome classically presents as a triad of iron-deficiency anemia, postcricoid dysphagia and upper esophageal webs[2]. Long-standing iron deficiency anemia can present as dyspnea or difficulty in breathing, tachycardia, weakness, pallor, and koilonychia or spoon nails. Dysphagia is progressive, spanning over the years, generally to solids and is painless. Dysphagia is painless and slowly evolving, starting with solid foods and difficulty in swallowing liquids after years of initial onset. Dysphagia becomes symptomatic only when luminal diameter in the region of the esophageal web becomes <12 mm. Dysphagia in PVS is generally graded I (occasional dysphagia on taking solids) or grade II (able to swallow only semi-solid diet)[13]. Other clinical findings can be glossitis and angular cheilitis.

Evaluation

Although PVS is a rare diagnosis these days, there should be high clinical suspicion in patients having iron-deficiency anemia, one or more esophageal webs, and post-cricoid dysphagia. Hematological testing is done to ascertain the cause as iron deficiency and the severity of anemia. The esophageal web is investigated by radiographic tools such as barium swallow, which is generally available easily even in remote locations and is a diagnostic tool which has the advantage of reproducible documentation. Video-fluoroscopy is usually more reliable for the demonstration of esophageal webs[14]. It is a dynamic X-ray evaluation, evaluates swallowing, as barium bolus moves to esophagus from mouth. An advantage of these newer techniques is the identification of smaller webs and distinction between true webs from false webs. Fiber-optic endoscopy is the safest and most reliable tool for GI tract examination. Esophagoscopy, endoscopic examination of the esophagus, has the advantage of being both diagnostic and therapeutic in the same sitting. During esophagoscopy, esophageal webs appear as smooth, thin, gray lesions and have normal appearing mucosa, with a central or lateral lumen and are most commonly located on the anterior wall of the esophagus.

Treatment / Management

Medical management includes iron supplementation. Occult or overt blood loss is ruled out along with any underlying malignancies or iron malabsorption. Elemental iron in the range of 150-200 mg is generally required for correction of iron deficiency anemia. Dysphagia in many patients resolves with just iron supplementation[2]. Esophageal webs need to be dilated endoscopically. Typically used techniques include endoscopic balloon dilatation or Savary-Gilliard dilators[15][16]. Therapeutic endoscopy denotes rupture of the web with a small amount of fresh blood at the site of the web.

Differential Diagnosis

Other causes of dysphagia are much more common than PVS, even the presence of iron deficiency anemia or an esophageal web should not lead to a diagnosis of PVS. Tracheoesophageal fistula in neonates, injuries to esophagus like blunt trauma or penetrating injuries, GERD, vascular rings, diverticula are some of the conditions which can present with similar dysphagia and spectrum of symptoms. Motility disorders like scleroderma, achalasia, diffuse esophageal spasm may present with esophageal web along with dysphagia. Benign and malignant tumors of the esophagus can have a similar presentation.

Treatment Planning

Elemental iron in the range of 150-200 mg is required for correction of iron deficiency anemia which in most cases corrects the dysphagia.

Prognosis

Patients with PVS have an excellent outcome. Patients are at an increased risk of developing squamous cell carcinoma of hypopharynx or upper esophagus. Long-standing iron deficiency is assumed to cause irreversible mucosal changes which potentially leads to malignant degeneration[17].

Complications

If untreated it carries a high risk of progression to squamous cell cancer of the esophagus[18]. Esophageal webs if untreated may also cause significant obstruction of the lumen and persistent dysphagia.

Deterrence and Patient Education

It is an extremely rare condition, hence, deterrence of this condition is difficult.

Enhancing Healthcare Team Outcomes

PVS is best managed by a multidisciplinary team that consists of a hematologist, gastroenterologist, and a thoracic surgeon. The patients are followed as outpatients by the primary care provider and nurse practitioner.  A middle-aged female presenting with dysphagia and long-standing iron deficiency anemia needs to be evaluated with esophagogram for esophageal rings and webs as esophagogastroduodenoscopy can sometimes miss these findings. Patients need to understand long-standing cases of iron deficiency anemia can potentially lead to Upper GI pathologies like dysphagia, esophageal webs and carry an increased risk of esophageal malignancies. Because there are very few cases, the long term outlook remains unknown.


References

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