Plummer–Vinson syndrome

Overview

Plummer–Vinson syndrome (PVS), also known as Paterson-Brown-Kelly syndrome or sideropenic dysphagia, is a rare disorder primarily affecting middle-aged women. It is characterized by a triad of features: iron-deficiency anemia, dysphagia (difficulty swallowing), and esophageal webs—thin membranes of tissue that partially block the upper esophagus. First described in the early 20th century, PVS is most commonly seen in individuals of Northern European descent but has been reported globally. Although now rare in developed countries due to better nutrition and iron supplementation, it remains clinically important because of its association with an increased risk of developing upper digestive tract cancers.

Causes

The exact cause of Plummer–Vinson syndrome is not fully understood, but it is strongly linked to iron deficiency. Iron plays a vital role in maintaining the integrity and function of epithelial tissues, including those lining the esophagus. The lack of iron leads to mucosal atrophy and the formation of esophageal webs, which can obstruct the passage of food. Contributing factors may include:

• Chronic iron-deficiency anemia: Often due to poor dietary intake, chronic blood loss (e.g., from menstruation or gastrointestinal bleeding), or malabsorption.

• Nutritional deficiencies: Low intake of other essential nutrients may exacerbate mucosal damage.

• Genetic predisposition: Though rare, familial cases have been noted.

Autoimmune associations and chronic inflammation have also been considered potential contributing factors in some cases.

Symptoms

Symptoms of Plummer–Vinson syndrome generally reflect its triad but may include additional signs related to iron deficiency. Common symptoms include:

• Dysphagia: Difficulty or discomfort when swallowing, particularly solid foods, due to esophageal webs.

• Fatigue and weakness: Classic signs of iron-deficiency anemia.

• Pallor: Pale skin and mucous membranes.

• Glossitis: Inflammation and soreness of the tongue, often appearing smooth and red.

• Cheilitis: Cracking and inflammation at the corners of the mouth.

• Koilonychia: Spoon-shaped nails, commonly associated with iron deficiency.

• Shortness of breath: Due to decreased oxygen-carrying capacity of the blood.

Over time, individuals with untreated PVS may develop nutritional deficiencies and are at increased risk for squamous cell carcinoma of the esophagus and pharynx.

Diagnosis

Diagnosing Plummer–Vinson syndrome involves a combination of clinical assessment, laboratory studies, and imaging. Diagnostic steps include:

• Complete blood count (CBC): Reveals microcytic hypochromic anemia, characteristic of iron deficiency.

• Serum iron studies: Low serum iron, low ferritin, and high total iron-binding capacity (TIBC).

• Barium swallow study: A radiologic test that may show esophageal webs in the cervical (upper) esophagus.

• Endoscopy: Allows direct visualization of the esophageal mucosa and confirmation of webs, with the possibility of dilation during the procedure.

The diagnosis is often clinical but confirmed through imaging and laboratory evidence of iron deficiency and esophageal abnormalities.

Treatment

Treatment of Plummer–Vinson syndrome primarily focuses on correcting the underlying iron deficiency and relieving dysphagia. Key components include:

• Iron supplementation: Oral iron therapy is the first line, typically with ferrous sulfate. Intravenous iron may be used in cases of severe deficiency or poor absorption.

• Nutritional counseling: Encouraging a diet rich in iron and other essential nutrients.

• Esophageal dilation: For patients with persistent or severe dysphagia, endoscopic dilation of esophageal webs may be performed to restore normal swallowing.

• Surveillance: Regular monitoring for potential malignant transformation, especially in long-standing or recurrent cases.

Symptomatic relief often occurs within weeks of initiating iron therapy, and dysphagia may resolve without the need for dilation in some cases.

Prognosis

The prognosis for Plummer–Vinson syndrome is generally excellent with early diagnosis and proper treatment. Most symptoms resolve with iron replacement, and esophageal dilation has a high success rate if needed. However, the syndrome carries an increased long-term risk of esophageal and oropharyngeal squamous cell carcinoma, making regular follow-up and surveillance essential. With adequate management and monitoring, most patients can maintain a good quality of life and avoid serious complications.