Inflammatory Bowel Disease: A Gastrointestinal Presentation of Congenital Plasminogen Deficiency

Area of Science:

• Gastroenterology
• Hematology
• Rare Diseases

Background:

• Plasminogen deficiency (PD) is a rare autosomal recessive disorder.
• PD is characterized by fibrin-rich pseudomembranes, impairing wound healing.
• PD is associated with inflammatory bowel disease (IBD).

Observation:

• A 21-year-old male with congenital PD presented with chronic diarrhea post-Clostridioides difficile infection.
• Colonoscopy showed colonic erythema and friability.
• Histology revealed fibrin deposits in the colonic lamina propria with inflammation and ulceration.

Findings:

• This case represents the first reported instance of colonic involvement in Plasminogen deficiency.
• The patient experienced chronic diarrhea attributed to PD-associated colonic inflammation.
• Fibrin deposition in the colonic mucosa was a key pathological finding.

Implications:

• This case expands the known clinical spectrum of Plasminogen deficiency.
• It suggests a potential link between PD and inflammatory bowel disease, specifically colonic manifestations.
• Further research is warranted to understand the pathogenesis of PD-associated gastrointestinal complications.