ABSTRACT Objective: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations related to chylomicron metabolism. The objective of this study is to show the development and results of a screening program for FCS in Argentina. Materials and methods: A cross-sectional study was performed. All patients > 18 years with a triglyceride level ≥ 1,000 mg/dL in the period from January 1, 2017 to December 31, 2021 were included. The program was developed in three stages: […]

OBJECTIVE: To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP. SUBJECTS AND METHODS: Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed. RESULTS: Leptin deficiency and hypertriglyceridemia were found in all the patients. Three progressed to diabetes mellitus. Four patients have mutations in AGPAT2 gene and one […]

OBJECTIVES: Diabetic ketoacidosis is a recurrent problem in the emergency room that requires prompt and effective treatment. Usually, it may be associated with an increase in triglyceride levels, exposing the patient to the risk of pancreatitis. METHODS: We report the case of a 38-year-old female patient with diabetic ketoacidosis and severe hypertriglyceridemia (triglycerides: 11.758 mg/dL). RESULTS: The patient was admitted to the Intensive Care Unit. Hydration and intravenous insulin were performed with success. During hospitalization, the levels of triglycerides decreased […]