From the Guidelines
Common Variable Immunodeficiency (CVID) is typically diagnosed in patients older than 4 years, with the average age of diagnosis often reported in the range of 20 to 40 years. The diagnosis of CVID should be considered in male or female subjects older than 4 years who have low IgG and IgA levels and impaired antibody response but do not have genetic lesions or other causes of primary or secondary antibody deficiency 1. It's essential to distinguish CVID from other primary immunodeficiencies that present earlier in life. The variable age of onset and heterogeneous presentation contribute to the challenges in promptly diagnosing this condition. Some key points to consider in the diagnosis of CVID include:
- Low levels of immunoglobulins (antibodies) and poor antibody response to vaccines
- Recurrent and chronic bacterial respiratory tract infections, including otitis media, sinusitis, bronchitis, and pneumonias
- Measurement of specific antibodies and evaluation of antibody response to vaccines
- Exclusion of other primary and secondary causes of antibody deficiency
- Consideration of the clinical presentation and laboratory findings, including serum IgG, IgA, and IgM levels, as well as B-cell numbers in the peripheral blood 1. The delay in diagnosis, often ranging from 6-8 years, occurs because CVID presents with recurrent infections that may initially be treated as isolated events rather than symptoms of an underlying immune disorder. Early recognition and diagnosis of CVID are crucial to prevent long-term complications and improve quality of life.
From the Research
Age of Diagnosis for Common Variable Immunodeficiency (CVID)
- CVID can present at any age, with clinical manifestations occurring more frequently between the ages of 6 and 10 years, and between 20 and 40 years 2.
- The mean age at diagnosis for adult patients with CVID was 43 ± 13.7 years, with a mean duration of diagnostic delay of 10.5 years 3.
- In children, the mean time between symptoms and induction of immunoglobulin substitution therapy was 5.8 years (0.2-14.3), indicating a significant delay in diagnosis 4.
- Diagnostic delays can lead to severe complications, such as bronchiectasis and malabsorption, emphasizing the importance of early diagnosis and therapy 5, 4.
- Late diagnoses, even after the age of 50, can still be fundamental to the recovery of the patient, as treatment with human immunoglobulin replacement can improve the quality of life 2.
Clinical Presentations and Diagnostic Considerations
- CVID presents with a wide range of clinical manifestations, including recurrent bacterial infections, respiratory and gastrointestinal tract infections, and autoimmune disorders 5, 4, 6.
- Immunological studies, including memory B-cell quantification, are useful in diagnosing CVID and orienting prognosis 5.
- The diagnosis of CVID is based on low IgG, IgM, and/or IgA levels, and a thorough evaluation of clinical and immunological data is necessary for accurate diagnosis 5, 3.