Work

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

Year: 2025

Type: article

Abstract: Introduction and importance: 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. Case presentation: 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. Discussion: 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. Conclusion: 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.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000003164

Authors: Sheetal Khadka, Rijana Shrestha, Subhash Pandian, Manal Upadhyay

Institutions: College of Medical Sciences, I.Horbachevsky Ternopil National Medical University

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,850