Plummer Vinson Syndrome
- Article Author:
- Sandeep Verma
- Article Editor:
- Sandeep Mukherjee
- Updated:
- 6/27/2020 1:32:16 PM
- For CME on this topic:
- Plummer Vinson Syndrome CME
- PubMed Link:
- Plummer Vinson Syndrome
Introduction
Plummer-Vinson Syndrome (PVS) is a rare condition characterized by the classic triad of dysphagia, iron-deficiency anemia and esophageal web. [1] Plummer Vinson Syndrome is more common in middle-aged women who appear to be at an increased risk of developing squamous cell carcinoma of the pharynx and proximal esophagus.[2] This syndrome was named after two Mayo Clinic physicians, Henry Stanley Plummer (1874-1936) and Porter Paisley Vinson (1890-1959) who noted cases of iron deficiency and dysphagia in the presence of suspected spasm of the upper esophagus or abnormal angulation of the esophagus. In the United Kingdom, this condition is also known as Paterson-Brown-Kelly syndrome after two British laryngologists, Dr.Donald Ross Paterson (1863-1939) and Dr. Adam Brown-Kelly (1865-1941) who published their findings in 1919.Dr.Paterson was also the first physician to suggest an association between this syndrome and carcinoma while in charge of the department of Ear, Nose and Throat Medicine at the Cardiff Royal Infirmary.
Etiology
Even after a century of the first reports of the cases, the etiology of Plummer Vinson Syndrome remain unknown. Although genetic predispositions and several other mechaniss have been postulated, the evidence remains weak although iron deficiency appears to consistently play an important role. This is partly due to studies which have reported an improvement in dysphagia with iron supplementation whereas iron deficiency is suspected to cause mucositis leading to web formation. As patients with Plummer Vinson syndrome may also suffer from malnutrition, deficiency of vitamin B has also been suggested as a cause although the evidence is weak and inconclusive. Other disorderes reported to be associated wtih Plummer Vinson Syndrome include celiac disease, Crohn's disease, rheumatoid arthritis and thyroid disease raising the possibility immune dysregulation may be involved in its pathogenesis although this remains to be proven.[3][4][5]
Epidemiology
Epidemiological data about incidence and prevalence for Plummer-Vinson syndrome are not widely available due to the rarity of this syndrome as noted in the literature with most cases in the literature focusing on case reports. Although this syndrome appeared to be more common in temperate Northern Countries during the previous century, improvement in nutrition and subsequent correction of iron deficiency have led to a decline in its prevalence.In addtion although webs may be identified on barium studies or esophagogastroduodenoscopy, these webs may be symptomatic in only a minority of patients and their presence alone does not meet the criteria for the diagnosis of Plummer Vinson Syndrome.However, an interesting single population-based study conducted in the 1960s in South Wales reported the prevalence of post-cricoid webs in women was between 0.3%-1.1% and 8.4%-22.4% in women with dysphagia while no webs were identfied in men.[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 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 some cases corrects the dysphagia.
Prognosis
Patients with PVS have an excellent outcome with most symptomatic patients requiring only one esophagogastroduodenoscopy wtih dilatation for complete relief of symptoms in conjunction with iron replacement therapy.
Patients are at an increased risk of developing squamous cell carcinoma of hypopharynx or upper esophagus which may be related to chronic iron deficiency.This is believed to to cause irreversible mucosal changes leading to malignant degeneration[17].
Complications
Untreated esophageal webs can lead to dysphagia for solids, abolute dysphagia and aspiration pneumonia.
Iron deficient patients may develop symptomatic anemia (fatigue, malaiase, dyspnea, angina pectoris) if iron supplementation is not provided.
Patients may develop squamous cell cancer of the proximal esophagus although the exact risk is know[18].
Endoscopic treatment of the esophageal web with Savary dilatations or balloon dilatations can be associated wtih a small risk of esophageal performation.
Deterrence and Patient Education
As this condition is rare with no identifiable cause, deterrence of this condition is not possible.
Enhancing Healthcare Team Outcomes
PVS is best managed by an interprofessional team comprised of a primary care practitioner and gastroenterologist. Although esophagagastroduodenosocpies are often performed as the initial evaluation in patients presenting with dysphagia, abnormalities such as rings or webs may be missed and such patients should be evaluated further with a barium esophagogram. Patients and primary care practitioners need to be aware of the small risk of malignacy associated with this condition and such patients require long -term follow up with prompt evaluation if new symptoms such as recurrent dysphagia or weight loss develop.