Diagnostic delay And its implications in Chronic Granulomatous Disease

Reference: MLA Barkai, Tal, et al. “Late diagnosis of Chronic Granulomatous Disease.” Clinical & Experimental Immunology.

Journal: Clinical & Experimental Immunology.

Summary: 1. 16 CGD patients from Israel whose diagnosis was made during adulthood were studied retrospectively 

                   2. 5/16 patients were X-CGD, of the AR-CGD, 4 patients were NCF1 and CYBA. Median age of onset was 7 years with an diagnostic delay of 19.25 years

                   3. Cutaneous  abscesses, recurrent pneumonia liver abscess were common infective complications and chronic lung disease, gingivitis and oral ulcers were common inflammatory manifestations

                  4. These patients were commonly misdiagnosed as Tuberculosis, Sarcoidosis and Inflammatory bowel disease

                  5. Though HSCT is less favourable due to disease complications, it should be considered as an option in with improved protocols and success in adulthood  

Bottom line: Delay in diagnosis leads to poor quality of life emphasising the need for timely diagnosis and optimal management and early referral for curative therapy