ABSTRACT

Introduction: The combination of disease manifestations, a familial burden and the rare genetic etiology serve a unique impact on Quality of Life (QoL) and psychosocial well-being in patients with Endocrine Tumor Syndromes (ETSs). This could be amplified by implemented medical surveillance protocols. Research on QoL in this population is scarce. We aimed to portray and summarize available data on QoL in patients with ETSs and explore possible gaps and opportunities in research.

Methods: Literature was systematically searched for articles on QoL and psychosocial wellbeing in patients with Multiple Endocrine Neoplasia (MEN), Von Hippel Lindau (VHL) and SDHx mutations via PubMed, PsychInfo and Embase. Study quality was assessed using both the CASP and STROBE appraisal tools.

Results: a total of 36 studies were included out of 2747 screened articles. Studies showed a considerable impact on QoL in patients with ETSs. Maladaptive coping, having affected offspring and disturbed personality traits were common predictors of psychosocial effects. Most studies reported on MEN, reporting long-term complications after parathyroid surgery as important explanation of diminished QoL, difficulties around thyroid surgery and speaking about ETSs in families. Some studies showed minimal effects of MEN2. Social and financial restraints could serve as barriers in recovery. Data on VHL disease were scarce, reporting a diverse range of experiences in both patients and family members. Fewest studies were found for SDHx mutations, reporting effects mainly connotated to manifest disease with paraganglioma being a negative predictor.

Conclusions: This overview contributes to a deeper understanding of psychosocial wellbeing and QoL in this population. Different underlying mechanisms may declare the psychosocial impact of ETSs. Screening interventions have ambivalent effects in patients, both creating a sense of control as well as serving as a constant reminder of having an ETS.