Endocrine Abstracts

Introduction: Hypertriglyceridemia is a common lipid disorder linked to cardiovascular risks. While lifestyle factors are often implicated, genetic mutations can also play a role. This case presents a rare instance of hypertriglyceridemia associated with lipemic splenomegaly due to a heterozygous variant in the apolipoprotein E (APOE) gene.

Case Presentation: A 32-year-old man, who never smoked and drinks occasionally, presented to the Same Day Emergency Care (SDEC) with atypical chest pain. Routine blood tests revealed isolated hypertriglyceridemia (20.1 mmol/L), hypothyroidism, and thrombocytopenia (initial samples were lipaemic). Physical examination showed no xanthelasma, corneal arcus, or xanthomas. An abdominal ultrasound revealed significant splenomegaly, measuring approximately 232mm. His father and twin brother both have similar conditions, including hypothyroidism, elevated triglycerides, and splenomegaly. Genetic testing confirmed a heterozygous APOE variant associated with hypertriglyceridemia.

Management: The patient was initially treated with Fenofibrate for hypertriglyceridemia and Levothyroxine for hypothyroidism. Due to persistent high triglyceride levels, low-dose Atorvastatin was added. Haematology recommended no active intervention for the mild thrombocytopenia. The patient’s hypertriglyceridemia is now well-controlled without complications, and he is under regular follow-up in the endocrine clinic.

Discussion: The APOE gene is vital for lipid metabolism, and its variants can alter lipoprotein profiles. While the exact mechanism of lipemic splenomegaly in this patient is unclear, it is hypothesized that the genetic mutation may disrupt lipid clearance, leading to lipid accumulation in the spleen.

Conclusion: b> This case underscores the importance of considering genetic factors in the assessment of hypertriglyceridemia. The presence of lipemic splenomegaly highlights the need for genetic testing to determine the underlying cause. Follow-up is essential not only for the patient but also for close relatives. Further research is needed to better understand the relationship between the APOE mutation and splenomegaly, with the goal of developing targeted therapeutic strategies.