Infectious and Non-Infectious Complications among Undiagnosed Patients with Common Variable Immunodeficiency

Objective: Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by hypogammaglobulinemia, defective specific antibody responses to pathogens and increased Susceptibility to recurrent bacterial infections. Delay in diagnosis and inadequate treatment can lead to irreversible complications and mortality. In order to determine infectious complications among undiagnosed CVID patients, 47 patients diagnosed in the Children's Medical Center Hospital during a period of 25 years (1984-2009) were enrolled in this study. Methods: Patients were divided into two groups including Group 1 (G1) with long diagnostic delay of more than 6 years (24 patients) and Group 2 (G2) with early diagnosis (23 patients). The clinical manifestations were recorded in a period prior to diagnosis in G1 and duration follow Lip in G2. The number of infections, non infectious complications, hospitalizations, and mortality rate was compared between the two groups. Findings: The patients in G1 group had 500 episodes of infections before diagnosis in 256 patient-years (0.08 per patient per year) and 203 times of hospitalization (0.03 per patient per year), which were significantly higher than in G2 patients, who had 75 episodes of infections (0.015 per patient per year) and 88 hospital admissions (0.018 per patient per year) during 207 patient follow-Lip years. Frequency of enteropathies and liver diseases in G1 were also significantly higher than in G2. Lack of awareness about nature of disease, especially among rural and suburban physicians, single organ involvement as a site of clinical presenting, and predomination of non infectious presentation in G1 were the major factors of delayed diagnosis. Conclusion: Diagnostic delay is a major concern in CVID patients, which Could result in irreversible complications and mortality, while early diagnosis and proper initial treatment leads to better outcomes and quality of life.