From recurrent infections to ulcerative colitis: a case report on the diagnostic challenge of CVID

Common Variable Immunodeficiency (CVID) is a rare primary immunodeficiency with complex presentations, including recurrent infections and autoimmune diseases. Given its rarity and overlapping symptoms with other gastrointestinal and infectious conditions, it is often overlooked. This case underscores the importance of considering CVID as a differential diagnosis when evaluating patients with recurrent infections and persistent gastrointestinal manifestations. It highlights the complexities of diagnosing and managing multifaceted, multisystemic disorders and reinforces the need for a personalized approach to treatment. We present a 68-year-old male with recurrent infections, gastrointestinal symptoms, and a family history of autoimmune disease and consanguinity. Initially diagnosed with malabsorption syndrome, the patient was later found to have ulcerative colitis (UC) and CVID.

A 68-year-old Asian male with a history of recurrent pulmonary infections, chronic diarrhea, and fatigue presented with a family history of autoimmune diseases. Investigations revealed a marked reduction in immunoglobulin levels, leading to the diagnosis of CVID. Further investigations, including a colonoscopy, confirmed the presence of UC. The patient was treated with intravenous immunoglobulin (IVIG), corticosteroids, and azathioprine. The patient's condition stabilized, and his infection frequency reduced significantly.

This case illustrates the complexity of diagnosing CVID, particularly when accompanied by autoimmune disorders like UC. The patient's overlapping symptoms of chronic infection, gastrointestinal distress and lack of proper follow through led to delayed diagnosis and treatment.

This case underscores the importance of considering CVID in patients with recurrent infections and unexplained gastrointestinal symptoms, particularly when there is a family history of autoimmune diseases.