Plummer-Vinson Syndrome With Concomitant Factor VII Deficiency

Area of Science:

• Hematology
• Gastroenterology

Background:

• Plummer-Vinson syndrome (PVS) is a rare disorder of dysphagia, iron deficiency anemia, and esophageal webs, typically seen in middle-aged women.
• The prevalence of PVS has decreased in the 21st century due to iron-fortified foods.
• Factor VII deficiency is a rare bleeding disorder affecting the coagulation cascade.

Observation:

• A case report details a 26-year-old African American female diagnosed with PVS and concurrent factor VII deficiency.
• The patient presented with a decade-long history of anemia and dysphagia, requiring transfusion for symptomatic anemia.
• Esophageal webs were identified, with incidental laboratory findings revealing factor VII deficiency.

Findings:

• This is the first reported case of Plummer-Vinson syndrome associated with factor VII deficiency.
• The case demonstrates that PVS can still be diagnosed in developed countries in the 21st century.
• Factor VII deficiency shows significant phenotypic variability, with no consistent correlation between phenotype and factor VII activity.

Implications:

• This case underscores the importance of considering PVS in patients with unexplained anemia and dysphagia, regardless of age.
• Patients with PVS require ongoing esophageal surveillance due to an elevated risk of esophageal cancer.
• Understanding the variability of factor VII deficiency is crucial for patient management, as severe bleeding is unlikely with factor VII activity above 2%.