Endocrine Abstracts

Background: Familial chylomicronemia is a rare disorder of lipoprotein metabolism characterized by severe fasting hypertriglyceridemia. We present here a case of severe familial chylomicronemia with multiple complications.

Case presentation: A 35-year-old Tunisian woman was suffering from chylomicronemia (Fredrickson type I hyperlipoproteinemia) since the age of 10 years old. Her dyslipidemia was caused by a lipoprotein lipase deficiency. Since her childhood, she was instructed to adhere to a low fat diet with prescription of omega-3-fatty acids. Her diet was sometimes enriched with medium chain triglycerides (MCT). However, her adherence was unsatisfying. Her last laboratory examination revealed a milky blood sample, marked elevation of Triglyceride (41.29 mmol/l), of cholesterol (91 mmol/l) and of gamma-glutamyl transferase (11*normal) whereas hemoglobin was remained low at 8 g/dl. Her liver transaminases, alkaline phosphatase, lactate dehydrogenase and amylase were normal. Her past medical history revealed recurrent bouts of pancreatitis since she was 25 years old. All the episodes of acute pancreatitis were associated with major hypertriglyceridemia. There was a history of eight episodes of acute pancreatitis with the development of severe local complications. Two pancreatic pseudocycts were formed. The patient had undergone a gastro-entero-anastomosis for the biliary-digestive compressive syndrome caused by pancreatic pseudocycts. Further hospital admissions occurred because of gastro-esophageal variceal bleeding. Indeed, pancreatic pseudocycts were complicated by regional portal hypertension that gave rise to gastric and oesophageal varices. The patient was kept under beta-blocker (propranolol) treatment. Endoscopic injection of biological glue was performed. For her, it required 17 sessions. Her first pregnancy was interrupted because of the occurrence of acute pancreatitis at the 24th week of pregnancy. Fortunately, thanks to good adherence to low fat diet, her chylomicronemia was successfully managed during her second pregnancy and a healthy preterm infant was born at 35 weeks of gestation.

Conclusion: In conclusion, this case shows the large number of complications that may cause familial chylomicronemia. The ffective management of hypertriglyceridemia would potentially decrease the occurerence of complications. Hence, health providers in should underscore the benefits of continuing and adhering to the low fat diet.