Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

Background Chronic granulomatous disease (CGD) patients are susceptible to recurrent opportunistic infections and to recurrent or chronic inflammations of presumably non-infectious origin. Both types of manifestations are often accompanied by granuloma formation. Both can remain unnoticed until they deteriorate considerably and can become life-threatening if not treated in time. Objective To evaluate the effectiveness of regular follow-up visits in CGD patients. Methods: Findings of imaging (ultrasound, radiographs, computer-tomography, magnetic resonance imaging), lung function tests, histopathological and microbiological assessments of biopsies have been reviewed. Results A total of 32 CGD patients have been evaluated within 15 years. Of these eight patients have been checked regularly for more than 5 years. Early detection prior to specific clinical signs and consecutive treatment of six lung manifestations and one liver manifestation such as interstitial pneumonia with formation of small granulomas, formation of large granulomas, fibrosis, Aspergillus infections, and abscesses could presumably prevent considerable aggravation in seemingly healthy or mildly symptomatic patients. In contrast, patients without surveillance who presented with severe symptoms (seven manifestations) often had irreversible organ damage or even died. Conclusions Regular follow-up visits can help prevent or mitigate clinical manifestations, improve life quality and expectancy and weigh indication for bone marrow transplantation in CGD patients.