Perspectives on chronic granulomatous disease: results of a clinician survey.

Background: Chronic granulomatous disease (CGD) is a primary immune deficiency characterized by neutrophils with an insufficient oxidative burst. Symptoms include infections and inflammatory manifestations affecting the lungs, lymph nodes, liver, bone, soft tissue, and other organs. Diagnostic and treatment approaches may vary between patients with X-linked CGD and patients with autosomal recessive CGD, depending on their age at diagnosis and the type and severity of their symptoms. Female carriers of X-linked CGD may also manifest symptoms of CGD that require tailored treatment and monitoring over time, though there is little consensus on management strategies for this population. The aim of this study was to measure perceptions among US-based clinicians on current diagnostic, treatment, and monitoring practices for patients with CGD, including variance in approaches across CGD subtypes. Methods: A 25-item survey was distributed to clinicians in various disciplines with experience in CGD care. Questions probed clinicians' overall approaches to CGD diagnosis, barriers to CGD care, preferred treatments, and factors influencing treatment decisions. When relevant, results were stratified to show differences in clinical approaches for male patients with X-linked CGD, patients with autosomal recessive CGD, and symptomatic female carriers of X-linked CGD. Result: Clinicians ranked the presence of CGD-associated pathogens as the factor most frequently leading to CGD identification, over the presence of minor or major infections, occurrence of noninfectious manifestations, and family history. Specialty referrals were likely to lead to a CGD diagnosis only sometimes or seldom. Infection severity was ranked as the top factor influencing CGD treatment recommendations across all CGD subtypes, although actual reported treatment decisions varied substantially for male patients with X-linked CGD and patients with autosomal recessive CGD vs. symptomatic female carriers of X-linked CGD. Conclusion: This survey is the first multidisciplinary US survey focused on clinician perceptions of current CGD care practices, including management of symptomatic female carriers of X-linked CGD. The results highlight the need for greater evidence-based clinical consensus in CGD diagnostic and treatment practices, particularly for symptomatic female carriers of X-linked CGD, and the importance of amplifying clinical suspicion for CGD among specialty clinicians to increase timely CGD diagnosis.