Disclosure(s): I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose
Abstract:
Background: Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive disorder characterized by reduced lipoprotein lipase activity, causing very elevated triglycerides, and high risk of recurrent pancreatitis. Patients often have minimal benefit from statins, fibrates and omega-3 fatty acids. Limiting dietary fat content remains the mainstay of treatment, but adherence is challenging. Recent trials show plozasiran, a small interfering RNA that targets apolipoprotein C-III (APOC3), significantly reduces triglyceride levels and pancreatitis risk in FCS.
Case Presentation: A 30-year-old man was referred to urgent endocrinology clinic with a serum triglyceride level >40mmol/L. He was diagnosed with hypertriglyceridemia at 6 months of age following a lipemic blood sample. No formal genetic diagnosis was made, and he was treated with fibrate until age 15. He had five admissions for pancreatitis after moving to Canada at age 20, with no cause other than elevated triglyceride levels identified. He had no other medical issues and had a normal BMI (23.3). No eruptive xanthomas were noted on exam. Given his severe elevation in triglyceride levels and early age at diagnosis, a genetic cause was strongly suspected. Genetic testing found he carried two rare pathogenic variants in the LPL gene, confirming an FCS diagnosis. Treatment with fenofibrate, ezetimibe, and iscosapent ethyl was initiated, with triglycerides lowered to 17.44 mmol/L. The patient has now been approved to receive treatment with plozasiran.
Conclusion: This case illustrates a patient with FCS, who will be among the who will be among the first in Canada to receive APOC3-targeted therapy.
