Hypercholesterolemia at the Crossroads of Lipid Metabolism, Hepatomegaly, and Neuropsychiatric Dysfunction

Introduction: This case report presents a 26-year-old male with complaints of obesity, hepatomegaly, and early-stage neuropsychiatric symptoms, including obsessivecompulsive disorder (OCD) and obsessive imagination. The investigation aimed to identify major gene mutations contributing to both neuropsychiatric disorders and abnormalities in lipid metabolism. Case Presentation: The subject had marked dyslipidemia with an increased LDL-C (163 mg/dL), total cholesterol (236 mg/dL), and borderline triglycerides (172 mg/dL) levels. Moreover, the patient had Grade 1 fatty liver and splenomegaly. Neurological symptoms like panic attacks, obsessive-compulsive disorder, and obsessive imagination have been associated with mutations in LRP8, FLG, and MT-CYB, which points to a possible disruption in neuronal signalling pathways. Conclusion: Obesity is the primary cause of hepatomegaly and is also suggested to be inversely involved in mental health. Our results show a complex interplay between lipid metabolism, liver dysfunction, and neuropsychiatric disorders. Personalised therapeutic strategies, focusing on both the diagnosis and the interactions between the results, are a necessary factor for future medical care and treatment.