Low psychosocial burden in patients with paraganglioma syndrome: results from the Head and Neck Paraganglioma Registry in a single center

OBJECTIVE: Autosomal dominant variants in the succinate dehydrogenase gene (SDHx) are responsible for ∼50% of the development of hereditary paragangliomas and pheochromocytomas (PPGLs). Limited research has been conducted on the psychosocial impact of possessing a hereditary tumor syndrome. In this study, the psychological impact of harboring a genetic variant associated with familial paraganglioma syndrome was assessed. Secondary objectives included the analysis of potential variations in quality of life in (pre)symptomatic stage and comparison with the general Dutch population and other hereditary tumor syndromes.

METHODS: The first 100 patients from the Head and Neck PGL Registry in the University Medical Center Utrecht were selected. Psychosocial outcomes were assessed cross-sectionally using 5 validated health-related questionnaires: EuroQol 5D-5L, Cancer Worry Scale, Hospital Anxiety and Depression Scale, Modified Fatigue Impact Scale, and EORTC QLQ-C30.

RESULTS: No significant differences were observed when stratified for (pre)symptomatic status or genetic variant status. Hereditary PPGLs tended to express greater concern about the development of PPGLs in family members. Complaints in the physical domains were more frequently observed in the sporadic group. The PPGL cohort demonstrated better outcomes when compared to other hereditary tumor syndromes and aligned with the Dutch tariff.

CONCLUSION: The psychosocial impact of harboring a PPGL seems to align with the general healthy Dutch population. Clinical care management involving a multidisciplinary approach and comprehensive counseling on PPGLs and their genetic origins, effectively supports patients. Routine psychological support in the care for these patients does not seem imperative and should be offered indicated on a case-by-case basis.