Plummer-Vinson syndrome overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

The Plummer-Vinson syndrome, also called Paterson-Brown-Kelly syndrome or sideropenic dysphagia is a disorder linked to severe, long-term iron deficiency anemia, which causes swallowing difficulty (dysphagia) due to web-like membranes of tissue growing in the throat (esophageal webs). The disease is named after two Americans, the physician Henry Stanley Plummer, and the surgeon Porter Paisley Vinson.

It is also sometimes called "Kelly-Paterson syndrome", after Adam Brown-Kelly and Donald Ross Paterson.

Historical Perspective

Plummer-Vinson syndrome was first discovered by Henry Plummer an American internist, in a case series of patients with long-standing iron deficiency anemia, dysphagia and spasm of the upper esophagus without anatomic stenosis in his article "Diffuse dilatation of the esophagus without anatomic stenosis." In the year 1919, Porter Paisley Vinson an American surgeon at the Mayo Clinic further described Plummer-Vinson syndrome in his article "A case of cardiospasm with dilatation and angulation of the esophagus." He reported a case of angulation of esophagus and attributed his findings to be consistent as described by Henry Plummer. In the year 1919, Donald Ross Patterson and Adam Brown Kelly, both British otolaryngologist described the characteristic clinical features of Plummer-Vinson syndrome in their article "A clinical type of dysphagia" and "Spasm at the entrance of the esophagus" respectively.

Classification

There is no established system for the classification of Plummer-Vinson syndrome.

Pathophysiology

Plummer-Vinson syndrome is a rare condition characterized by iron-deficiency anemia, glossitis and dysphagia. The exact pathogenesis of Plummer-Vinson syndrome is not fully understood. It is postulated that Plummer-Vinson syndrome results from iron deficiency. Other possible factors include malnutrition, genetic predisposition and autoimmune disorders. In patients with iron deficiency, the iron-dependent oxidative enzymes are unable to function at optimum level and the dependent metabolic pathways (oxidative phosphorylation) are reduced. This promotes anaerobic metabolism with increased consumption of glucose and increased production of lactic acid and may lead to myasthenic changes in muscles. These myasthenic changes are often seen in muscles involved in swallowing and may lead to atrophy of the esophageal mucosa and formation of esophageal webs. Patients who do not exhibit obstructive lesions (web or stricture) may have dysphagia resulting from muscular in-coordination. Patients with iron deficiency have low levels of myoglobin which may affect the muscles of the tongue and lead to glossitis. In Plummer-Vinson syndrome, deficiency of iron can lead to epithelial atrophy and a decrease in the regenerative capacity of the mucosa. The decrease in rate of healing allows the chronic irritants to act progressively, predisposing the oral cavity and esophagus to malignant transformation (squamous cell carcinoma). Genes involved in the pathogenesis of iron deficiency anemia associated with Plummer-Vinson syndrome include mutation in TMPRSS6 gene. The TMPRSS6 gene encodes instructions for the protein hepcidin. Increased levels of hepcidin leads to decreased release of iron from ferritin and subsequently presents as iron deficiency anemia. On gross pathology, esophageal web and esophageal strictures are characteristic findings of Plummer-Vinson syndrome. On microscopic histopathological analysis, Plummer-Vinson syndrome presents with epithelial atrophy, chronic submucosal inflammation and epithelial atypia or dysplasia (in advanced cases).

Causes

The cause of Plummer-Vinson syndrome is unknown; however, iron deficiency anemia, genetic factors and nutritional deficiencies may play a role. Iron deficiency anemia is the most widely regarded cause of Plummer-Vinson syndrome and can be due to increased iron demand, decreased intake and malabsorption syndromes.

Epidemiology and Demographics

Plummer-Vinson syndrome is a rare disease and the data pertaining to incidence and prevalence is not evidently available. Overall improvement in nutritional status with better medical care has markedly reduced the number of cases of Plummer-Vinson syndrome. However, individuals of any age groups may develop Plummer-Vinson syndrome and it is most commonly seen in the age group of 40-70 years. Plummer-Vinson syndrome usually affects individuals of the caucasian race. Females are commonly affected than males with female to male ratio of 4:1. The majority of Plummer-Vinson syndrome cases are reported in Scandinavian countries or north European countries.

Risk Factors

There are no established risk factors for Plummer-Vinson syndrome. However, chronic irritation of the esophagus may predispose to an increased frequency of esophageal webs or strictures. Conditions which can irritate esophagus includes thermal injury, mechanical injury, achalasia, esophageal diverticulum, chronic lye stricture, radiation therapy, injection sclerotherapy, gastric resection, celiac disease, tylosis and scleroderma.

Screening

There is insufficient evidence to recommend routine screening for Plummer-Vinson syndrome.

Natural History, Complications, and Prognosis

If left untreated, patients of Plummer-Vinson syndrome may progress to develop fatigue, dyspnea on exertion, esophageal strictures, and malignant lesions of the mouth and oral cavity. Common complications of Plummer-Vinson syndrome include hypopharyngeal cancer, esophageal cancer and malignant lesions of oral mucosa. Depending on the extent of Plummer-Vinson syndrome at the time of diagnosis, the prognosis may vary. Prognosis is generally good for patients who receive treatment. Iron replacement therapy and dilatation of esophageal web leads to rapid reversal of symptoms.

Diagnosis

Laboratory Findings

Laboratory findings consistent with the diagnosis of Plummer-Vinson syndrome include presence of iron deficiency anemia. Patients suspected of Plummer-Vinson syndrome should be tested with complete blood count (CBC), iron studies, peripheral smear, stool test for occult blood, blood lead levels and bone marrow biopsy for stainable iron.

Imaging Findings

Videofluoroscopy may be helpful in the diagnosis of Plummer-Vinson syndrome. Videofluoroscopy is done in patients with normal barium esophagogram who have a high probability of Plummer-Vinson syndrome. Videofluoroscopy is superior to barium esophagogram and has the ability to detect small esophageal webs resulting from insignificant mucosal and submucosal foldings which may otherwise go undiagnosed.