What is Paterson-Kelly syndrome?

Paterson-Kelly Syndrome

Paterson-Kelly syndrome (also known as Plummer-Vinson syndrome) is characterized by the triad of dysphagia, iron deficiency anemia, and esophageal webs, with an increased risk of developing upper aerodigestive tract malignancies, particularly squamous cell carcinoma of the esophagus. 1, 2, 3

Clinical Features

• Dysphagia (difficulty swallowing) is the primary presenting symptom, particularly affecting solids 2, 4
• Iron deficiency anemia is a consistent finding in nearly all cases 3, 5
• Esophageal webs, typically located in the upper esophagus (postcricoid area), can be single or multiple 4, 5
• Koilonychia (spoon-shaped nails) may be present in some patients as a manifestation of severe iron deficiency 5
• Most commonly affects middle-aged women, though cases have been reported in men and children 4, 5

Pathophysiology

• Iron deficiency plays a crucial role in the development of this syndrome 4, 3
• The exact mechanism linking iron deficiency to esophageal web formation remains unclear 4
• The term "sideropenic dysphagia" has been used to describe this condition due to the absence of stainable iron in the bone marrow 2

Diagnosis

• Clinical suspicion should arise in patients presenting with dysphagia and iron deficiency anemia 3, 5
• Laboratory tests to confirm iron deficiency anemia (complete blood count, serum iron, ferritin, total iron binding capacity) 3, 5
• Upper gastrointestinal endoscopy to visualize esophageal webs 2, 5
• Barium swallow may demonstrate the characteristic webs in the upper esophagus 5
• Evaluation for underlying causes of iron deficiency, including celiac disease, should be considered 6

Treatment

• Iron supplementation is the cornerstone of therapy and often leads to improvement in dysphagia 3, 5
• Mechanical dilation of esophageal webs may be necessary if dysphagia persists despite iron therapy 4, 5
• Endoscopic balloon dilation is effective and can be performed even in pediatric patients 4
• Regular surveillance is essential due to the increased risk of malignant transformation 3

Complications and Prognosis

• Increased risk of developing upper aerodigestive tract malignancies, particularly squamous cell carcinoma of the esophagus 1, 2
• Reported rates of malignancy range from 4% to 16%, with most cases occurring at the postcricoid location 2
• Regular endoscopic surveillance is recommended to monitor for malignant transformation 3
• Prognosis is generally good with appropriate treatment of iron deficiency and management of esophageal webs 5

Associated Conditions

• Celiac disease has been reported in association with Paterson-Kelly syndrome 6
• Other autoimmune conditions such as rheumatoid arthritis may coexist in some patients 5
• Thyroid disorders have been reported in some cases 5

Clinical Pearls and Pitfalls

• Always consider Paterson-Kelly syndrome in patients presenting with unexplained dysphagia, particularly women with iron deficiency anemia 3, 5
• Failure to recognize and treat this condition may lead to missed opportunities for cancer prevention 2, 3
• Even after successful treatment, regular follow-up is essential due to the increased risk of malignancy 3
• While rare in children, this syndrome should be considered in pediatric patients with persistent dysphagia and iron deficiency 4