The value of early diagnosis and treatment of patients with primary antibody deficiencies

Abstract

The primary antibody deficiency syndromes are a rare group of disorders that can present at any age and for which delay in diagnosis remains common. Replacement therapy with immunoglobulin in primary antibody deficiencies increases life expectancy and reduces infection frequency and severity. Higher doses of immunoglobulin are associated with reduced infection frequency. Late diagnosis and delayed institution of immunoglobulin replacement therapy results in increased morbidity with a wide variety of organ-specific complications and increased mortality.

Therapy with immunoglobulin leads to improvements in overall quality of life, and many of the improvements relate to reduced infection rates and fear of future infections, strongly suggesting that the immunoglobulin therapy itself is the major factor in this improvement. There is limited data on the economic benefits of immunoglobulin therapy, with the fluctuating costs of immunoglobulin making comparison between different studies difficult. However, estimates suggest that early intervention with immunoglobulin replacement compares favourably with prolonged therapy for other more common chronic diseases.