Endocrine Abstracts

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism with an incidence of one per million in the general population. It is characterized by marked elevation of triglyceride and chylomicron levels, resulting in lipemic plasma and recurrent attacks of acute pancreatitis, eruptive xanthoma, hepatosplenomegaly, and lipemia retinalis.

Case Presentation: We report the case of an 18 years old patient, an only son, from a cansanguineous marriage of 2nd degree with a personal history of 4 episodes of acute pancreatitis since the age of 4 months, who presents a lipemic fasting blood and a lipid profile with triglyceride levels over 15000 mg/dl, a normal cholesterol and a low high-density lipoprotein (HDL) levels. Physical examination was insignifcant for any findings. There were no eruptive xanthomas or abdominal pain. Abdominal ultrasound was normal. The lipid profile of his father shows a moderate hypertriglyceridemia at 2860 mg/dl, the mother assessement was normal. Familial chylomicronemia syndrome was diagnosed. Our patient was given a special diet devoid of triglyceride and containing medium chain fatty acid diet and was also started with fenofibrate and omega 3. After a month, repeated blood test revealed a reduction in triglyceride level to 3100 mg/dl.

Discussion and Conclusion: Familial chylomicronemia syndrome is an autosomal recessive disorder resulting from lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or due to the presence of an inhibitor of LPL. The diagnosis of familial LPL deficiency is based on the demonstration of lipemic plasma with elevated chylomicron and triglyceride levels and a reduced to normal VLDL level, and is confirmed by assessment of LPL activity in plasma. Familial apolipoprotein-CII deficiency shows a raised VLDL level in addition to the derangements as seen in LPL deficiency. Acute relapsing pancreatitis is the most significant and often life-threatening complication. Dietary modification plays a key role in the management of this disease. Dietary fat should be restricted to <20 g/day and <15% of the total caloric intake so that triglyceride levels are maintained below 1500 mg/dl. Fibric acid derivatives and omega 3 are recommended. Fenofibrate may reduce hepatic triglyceride synthesis and increase LPL activity. Adverse effects of fibrates include elevated creatinine kinase and liver enzymes. Volanesorsen are new therapeutics that reduce triglyceride levels to less than 750 mg/dl in 77% of patients with familial chylomunclonemic syndrome. thrombocytemia and injection site reactions were common adverse effects.

Keywords: Chylomicronemia, Lipoprotein lipase, acute pancreatitis .