Prevalence and Characterization of Eating Disorders among Patients with Inborn Errors of Metabolism Managed with Diet

Background Lifelong restrictive diets are a mainstay of management for many inborn errors of metabolism (IEMs). The experience of metabolic care providers suggests a high prevalence of eating disorders among these patients; however, this has not been well characterized. This study applied validated tools to screen patients for eating disorders and to characterize their symptom pathologies. Patients aged 16 years and older on prescription diets at the Program for Inherited Metabolic Diseases at the Icahn School of Medicine at Mount Sinai were recruited, and patient demographics were collected through medical record review. All participants were given 2 assessment tools: the SCOFF questionnaire, a 5-question screen for a possible eating disorder, and a modified Eating Pathology Symptoms Inventory (EPSI), a 45-item Likert-scaled questionnaire characterizing eating disorder pathology. Results Fifty-two subjects were enrolled, and 51 completed both surveys. 27 subjects identified as female (52%), 23 as male (44%), and two as genderqueer (4%). Ages ranged from 16-50 years old. The most common diagnosis was Phenylketonuria (n=34, 65%), followed by glycogen storage disease type 1a (n= 8, 15%). Most patients were on a low-protein diet (n=41, 79%), 17% (n=9) were on a low-carbohydrate diet, and 6% (n=3) were on a low-fat diet. The SCOFF screen positive rate was 35%, indicating that over one third of the participants have a potential eating disorder, which is significantly greater than population norms of 10.1% (p<0.001). EPSI results revealed that our participants were significantly more likely to demonstrate binge eating, restrictive behaviors, excessive exercise, and negative attitudes towards obesity when compared to population norms. Conclusion This study demonstrates a significantly increased prevalence of likely eating disorders among patients with IEM, about three times that of the general population. Metabolic providers should be aware of this risk to their patients, as eating disorders can impact metabolic control and adherence to diet, while also causing significant psychological distress to patients with these rare disorders. Steps must be taken to create a standardized approach to screen patients with IEM in clinic and streamline access to specialized care for eating disorders.