ABSTRACT Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease. The differential diagnosis with other congenital dyslipidemias presents significant challenges. We describe a case of a male patient who presented with hypercholesterolemia and tendinous xantomas from the age of 5. The patient was born to consanguineous parents, with no family history of hypercholesterolemia. With the […]

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 […]

OBJECTIVE: To evaluate the relationship between fat intake and serum cholesterol. METHODS: A survey was conducted in a probabilistic sample of students from public schools in Niterói, state of Rio de Janeiro, Brazil. Anthropometric data were collected on 610 youngsters, 573 of them had blood drown, and 539 answered a simplified questionnaire on fat intake. Multivariate linear regression included as confounders: parents’ cholesterolemia, adolescent age and body mass index (BMI). RESULTS: The prevalence of high concentrations (> 170 mg/dL) of […]

Rhabdomyolysis has been the theme in medical literature for the last fifty years. In these last decades, with statins being used in primary and secondary cardiovascular prevention events, this theme returns and statins are now pointed as the trigger to this almost always fatal complication. Rhabdomyolysis due to statins administration occurs mainly in association with other drugs. Our case reports on a patient with fatal statin-induced rhabdomyolysis whose medical history included diffuse atherosclerotic disease.

OBJECTIVE: To evaluate the presence of insulin resistance (IR) and changes in lipid profile in Turner Syndrome (TS), and to check the influence of age, karyotype, systemic arterial hypertension (SAH), height, weight, body mass index (BMI), and pubertal development. PATIENTS AND METHODS: A transversal study of 35 TS patients, confirmed with karyotype (5 to 43 years), without previous use of anabolic steroid or hGH, with evaluation of blood pressure, pubertal development, anthropometric data, measurement of waist (W), hip (H), W […]