Recurrent diarrhea in a 26-year-old man.

Area of Science:

• Gastroenterology and Immunology
• Primary Immunodeficiency Disorders

Background:

• Chronic diarrhea can be misdiagnosed as irritable bowel syndrome, delaying appropriate diagnosis and treatment.
• Primary immunodeficiencies are often overlooked in adults presenting with chronic gastrointestinal symptoms.

Observation:

• A 26-year-old healthy male presented with a 2-year history of chronic diarrhea.
• Initial stool studies were negative, leading to a presumptive diagnosis of irritable bowel syndrome.
• Esophagogastroduodenoscopy showed villous blunting and a paucity of CD 138 plasma cells.

Findings:

• The endoscopic findings, combined with clinical presentation, led to the diagnosis of a primary immunodeficiency.
• This case highlights an uncommon presentation of a common immunodeficiency.

Implications:

• Gastroenterology and allergy/immunology specialists should consider primary immunodeficiencies in patients with unexplained chronic diarrhea.
• Early recognition and diagnosis of primary immunodeficiencies are crucial for effective management and improved patient outcomes.
• This case underscores the importance of a comprehensive diagnostic approach for persistent gastrointestinal symptoms.