Plummer-Vinson syndrome

Plummer-Vinson syndrome is a rare medical condition that presents as a classical triad of dysphagia (difficult swallowing), iron-deficiency anemia, and esophageal web formation ¹. People with Plummer-Vinson syndrome have problems swallowing due to small, thin growths of tissue that partially block the upper food pipe (esophagus). Plummer-Vinson Syndrome mostly affects women in the age group of 40 to 70 ². The affected individuals are at an increased risk of squamous cell carcinoma of the pharynx and the esophagus ³. Plummer-Vinson Syndrome 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 ⁴.

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 ⁵.

Taking iron supplements may improve the swallowing problems. Elemental iron in the range of 150-200 mg is required for correction of iron deficiency anemia which in most cases corrects the dysphagia. If supplements do not help, the web of tissue can be widened during upper endoscopy. This will allow you to swallow food normally.

Plummer-Vinson syndrome causes

The cause of Plummer-Vinson syndrome is unknown ⁴. Genetic factors and a lack of certain nutrients (nutritional deficiencies) may play a role. Iron deficiency anemia is the most widely accepted causal association of Plummer-Vinson syndrome. 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 ⁴. However, the evidence is weak and inconclusive. Some autoimmune diseases like celiac disease ⁶, thyroiditis, rheumatoid arthritis ⁷ and Crohn disease ⁸ have been reported concurrently with Plummer-Vinson syndrome.

The exact pathogenesis of Plummer-Vinson syndrome 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 ³. 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 ⁹. 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 ³. Upon biopsy, no inflammatory infiltrates are found ¹⁰. Further, iron deficiency has been reported to cause a decrease in contraction amplitude of esophageal muscle ¹¹. Role of mucosal inflammation and atrophy especially in the post-cricoid region has been suggested as a factor for the pathogenesis of Plummer-Vinson syndrome. The post-cricoid region experiences maximum trauma during swallowing of the solid bolus, leading to increased risk of web formation ¹².

Plummer-Vinson syndrome symptoms

Most patients with Plummer-Vinson syndrome are initially asymptomatic. People with Plummer-Vinson syndrome classically presents with a triad of iron-deficiency anemia, postcricoid dysphagia and upper esophageal webs ³. Long-standing iron deficiency anemia can present as dyspnea or difficulty in breathing, tachycardia, weakness, pallor, and koilonychia or spoon nails. Difficulty swallowing (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 Plummer-Vinson syndrome is generally graded 1 (occasional dysphagia on taking solids) or grade 2 (able to swallow only semi-solid diet) ¹³. Other clinical findings can be glossitis and angular cheilitis.

Plummer-Vinson syndrome complications

If Plummer-Vinson syndrome is untreated, it carries a high risk of progression to squamous cell cancer of the esophagus or esophageal cancer ¹⁴. Esophageal webs if untreated may also cause significant obstruction of the lumen and persistent dysphagia.

Plummer-Vinson syndrome diagnosis

Your health care provider will do an exam to look for abnormal areas on your skin and nails. There should be high clinical suspicion in patients having iron-deficiency anemia, one or more esophageal webs, and post-cricoid dysphagia.

You may have an upper gastrointestinal (GI) series or upper endoscopy to look for abnormal tissue in the food pipe. You may have tests to look for anemia or iron deficiency. 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 ¹⁵. 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.

Plummer-Vinson syndrome treatment

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 ³. Esophageal webs need to be dilated endoscopically. Typically used techniques include endoscopic balloon dilatation or Savary-Gilliard dilators ¹⁶. Therapeutic endoscopy denotes rupture of the web with a small amount of fresh blood at the site of the web.

Plummer-Vinson syndrome prognosis

Patients with Plummer-Vinson syndrome have an excellent outcome unless Plummer-Vinson syndrome is complicated by hypopharyngeal or esophageal carcinoma ¹⁷. 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 ¹⁸. A high prevalence of hypopharyngeal cancers in Swedish women in the 1930s and 1940s was attributed to Plummer-Vinson syndrome ¹⁹. The reported frequency of postcricoid carcinoma associated with Plummer-Vinson syndrome varies (4-16% in older studies) and remains a matter of debate ²⁰.

Patients with Plummer-Vinson syndrome usually respond well to iron therapy, diet modification, and, if necessary, esophageal dilation.

Mortality and Morbidity

Morbidity issues primarily relate to diet modification and repeat esophageal dilations (with a small risk of perforation) in patients with Plummer-Vinson syndrome who have recurrent dysphagia. Updated mortality data are unavailable for this rare syndrome, but, presumably, mortality is low.

References

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