#1772 Pilot results from evaluation of autosomal dominant polycystic kidney disease diagnosis impact on the patients’ quality of life

Abstract Background and Aims Deterioration of quality of Life (QoL) in autosomal dominant polycystic kidney disease (ADPKD) is closely linked to physical and mental health, with pain playing a significant role. Many patients with ADPKD also endure depression, fatigue, sleep disturbances, and anxiety during their disease progression. Moreover, the hereditary nature of ADPKD frequently leads to genetic guilt feeling, which might intensify anxiety. To evaluate the impact of ADPKD diagnosis on patients’ QoL, we utilized the PROMIS-29+2 Profile v2.1 (PROPr) questionnaire, a validated tool designed to evaluate multiple health domains. Method This ongoing study was reviewed and approved by the Institutional Review Board (IRB) at Loma Linda University. To date, we have recruited 15 adult participants aged 18 years or older with a confirmed diagnosis of ADPKD through genetic testing. Participants completed the PROMIS-29+2 Profile v2.1 (PROPr) questionnaire, which evaluates multiple health domains, including physical function, anxiety, depression, fatigue, sleep disturbance, ability to participate in social roles and activities, pain interference, cognitive function, and pain intensity. For each domain, the respective scores were calculated and analyzed to evaluate the overall and domain-specific impact of ADPKD on patients’ QoL. Results The pilot results included 15 patients with ADPKD. The mean age of participants was 45 years (SD = 17), ranging from 21 to 76 years, predominantly consisted of females (11, 73.3%) compared to males (4, 26.7%). The racial distribution showed that White/Caucasian patients comprised 60.0% (9) of the sample, while 40.0% (6) were classified as Other, among which one was Filipino, and one was Black/African American. According to genetic analysis, PKD1 mutations were most common (9, 60.0%), followed by negative/variant of uncertain significance (VUS) results (4, 26.7%) and PKD2 mutations (2, 13.3%). Regarding treatment, only four patients (26.7%) received tolvaptan, while the majority (11, 73.3%) were not on this medication. Based on the participants' responses, physical function was slightly below average at 48 (SD = 9), indicating mild restrictions in physical activity. Anxiety levels were significantly higher at 58 (SD = 12), reflecting more anxiety symptoms than the reference population. Depression was graded near average (52; SD = 10), suggesting normal depressive symptoms. Fatigue was elevated with a mean score of 59 (SD = 13), indicating greater levels of exhaustion relative to the general population. Sleep disturbance and the ability to participate in social roles and activities were consistent with the population at a mean average of 51 (SD = 11). Pain interference was nearly average at 49 (SD = 9), indicating that pain has a usual impact on daily activities. Cognitive function abilities were assessed at the population mean of 50 (SD = 10). Multiple linear regression analysis revealed several significant predictors across PROMIS-29+2 domains. For anxiety, being male (B = −13.763, P = .021) and having PKD2 mutation (B = −17.257, P = .035) were associated with significantly lower anxiety scores. Depression scores were significantly lower in males (B = −17.988, P = .015). Fatigue scores were significantly higher in White participants (B = 13.001, P = .027) and those with Negative/VUS mutations (B = 11.972, P = .047). Pain interference was significantly higher in those with Negative/VUS mutations (B = 14.735, P = .033). Cognitive function scores were significantly better in males (B = 17.783, P = .028) (Fig. 1). Conclusion The pilot results highlight notable gender and mutation based disparities in the QoL among patients with ADPKD. Males and individuals with PKD2 gene mutations exhibited lower anxiety and depression scores, while fatigue and pain interference were more pronounced in the white race and those with Negative/VUS mutations.