To Örebro University

Recent genome-wide association studies (GWAS) suggest that genetic factors play a key role in its development and expression and that anorexia nervosa (AN) might have both psychiatric and metabolic underpinnings. One hypothesis is that those with high genetic vulnerability to AN may experience negative energy balance (NEB) (i.e., expending more energy than you consume) in a positive manner, rendering self-starvation and excessive exercise exceptionally reinforcing. This “paradoxical” response to NEB may also complicate recovery. In the Polygenic risk of Anorexia nervosa and its Clinical Expression (PACE) study, we explored differences in clinical and phenomenological/experiential phenotypes (i.e., how patients reported their experience of illness) in 10 individuals with AN who were in the top decile of AN polygenic risk (PRS) and 10 individuals with AN who were in the lowest decile in the Swedish subsample of the Anorexia Nervosa Genetics Initiative (ANGI) study. We interviewed the participants in a double-blind study design using a structured interview guide focusing on the experience of AN, including experiences of NEB (e.g., hunger, satiety, dietary restriction), the development of symptoms, as well as the reactions of others including family members and treatment providers to patients’ experiences of NEB. All interviews have been coded and the blind will be broken in May 2023 at which point group comparisons will be analyzed. This is the first study, to our knowledge, to explore experiential impact of genetic risk. Findings may aid in understanding risk, clinical course, and individual experience of AN and contribute suggestions for tailoring interventions with input from genetic risk profiles.