"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective

BackgroundPatients with classical homocystinuria (HCU) are unable to metabolize homocysteine and rely on dietary treatment to reduce their risk of complications (e.g., thromboembolism, cognitive impairment). Little is known about how patients are affected by their HCU disease experience.MethodsOne-on-one, semi-structured interviews were conducted in adult and pediatric patients (aged >= 12 years) with HCU and in primary caregivers on behalf of pediatric patients aged 5-17 years. Interviews elicited patients' experiences with signs, symptoms, and impacts of HCU. Participants listed their most-bothersome signs/symptoms and impacts and were asked about what changes in HCU treatment would improve their everyday lives.ResultsEleven adult patients, two pediatric patients, and seven caregivers (of non-participating patients) participated. Many were most bothered by cognition-related symptoms (n = 7, 35%) and fatigue (n = 6, 30%). Nearly all participants (n = 19, 95%) struggled with the "very restricted [low-protein] diet" and the "disgusting" and inconvenient medical formula. The dietary restrictions and requirements often led to challenges fitting in socially. Psychological impacts of HCU (e.g., anxiety, depression) were highly prevalent (n = 16, 80%) and bothersome (n = 9, 45%). Many patients experienced financial burdens related to their dietary treatment (n = 14, 70%). Most participants wanted a treatment involving less formula or a more relaxed diet (n = 12, 60%) and felt that these changes would meaningfully improve their everyday lives.ConclusionsMost patients were burdened by adhering to dietary treatment and by symptoms that worsened when they did not adhere to treatment. These findings can be used to inform treatment goals and care to improve patients' everyday lives.