Correlations between depression, anxiety and quality of life in patients with familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a major public health concern with an increasing incidence in the recent decades. The number of patients with anxiety and depression has doubled, leading to decreased adherence to treatment, increased cardiovascular risk and thus decreased quality of life. The study evaluated the affective status of the patients with FH. We investigated the relationship between the psycho-emotional burden associated with this genetic disorder and the resulting decline in quality of life, thereby underscoring the necessity of a holistic, patient-centered approach in the management of FH. Methods: Our cross-sectional study included 70 patients over 18 years of age with familial hypercholesterolemia, a diagnosis sustained on the basis of a Dutch Lipid Clinic Network (DLCN) score greater than 8 points. A comprehensive evaluation was conducted utilizing the Generalized Anxiety Disorder-7 (GAD-7), Patient Health Questionnaire (PHQ-9), Geriatric Depression Scale Questionnaire (GDS), the Mini-Mental State Examination (MMSE) for the evaluation of global cognitive function, as well as measures of muscle strength and frailty. For the assessment of quality of life we employed the 36-item Short Form Survey (36-SF). For statistical analysis, both descriptive and correlation tests were used. Results: In the FH group, all components of the SF-36 quality of life questionnaire were statistically significantly negatively correlated with the two affective status scores, with statistical analysis showing p-values of 0,007 for physical function, 0,005 for physical role and 0,002 for somatic pain, while for all other parameters, p-values were below 0,001. Moreover, all components of the SF-36 score were negatively associated with GDS, especially with regards to physical function, physical component and vitality ( p < 0,001 for all). Cognitive performance assessed by the MMSE differed significantly between groups ( p = 0,025), with lower scores in the FH group, and was negatively correlated with age, frailty and metabolic parameters. Frailty assessed by the frailty scale objectified negative correlations for physical function, somatic pain, general health, and the physical and mental components. Conclusion: Given these associations, systematic screening with PHQ-9, GAD-7, and GDS at the time of FH diagnosis may facilitate earlier identification and treatment of affective disorders, with potential downstream benefits for treatment adherence and cardiovascular risk management. The MMSE may complement this approach by enabling early detection of cognitive impairment, which was more frequent in the FH group. Prospective and interventional studies are needed to confirm whether such screening translates into improved clinical outcomes.