[Delay in diagnosis of common variable immunodeficiency: a paradigmatic case report]

Area of Science:

• Immunology
• Clinical Medicine
• Diagnostic Challenges

Background:

• Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by low immunoglobulin levels and impaired antibody production.
• Delayed diagnosis of CVI can lead to severe complications, including recurrent infections, autoimmune disorders, and increased risk of malignancy.
• Early recognition and management are crucial for improving long-term prognosis in CVI patients.

Observation:

• An 84-year-old patient presented with a history spanning over three decades of recurrent infections.
• Initial assessment revealed significantly low serum IgG levels (<134 mg/dl).
• Review of historical medical records indicated persistent hypogammaglobulinemia for at least 14 years prior to the current evaluation.

Findings:

• The case report illustrates a significant diagnostic delay in identifying CVI, despite a long history of symptoms.
• The patient exhibited profound hypogammaglobulinemia, a hallmark of CVI, for over a decade before diagnosis.
• This highlights a critical gap in the timely recognition of CVI in clinical practice.

Implications:

• This case emphasizes the importance of considering CVI in patients with recurrent infections, even in the absence of typical risk factors.
• Healthcare providers should maintain a high index of suspicion for CVI and utilize immunoglobulin level testing for early diagnosis.
• Prompt diagnosis and management of CVI can prevent irreversible organ damage and improve quality of life.