Clinical impact of genetic testing for lipid disorders.

PURPOSE OF REVIEW: Genetic testing is increasingly becoming a common consideration in the clinical approach of dyslipidemia patients. Advances in research in last decade and increased recognition of genetics in biological pathways modulating blood lipid levels created a gap between theoretical knowledge and its applicability in clinical practice. Therefore, it is very important to define the clinical justification of genetic testing in dyslipidemia patients. RECENT FINDINGS: Clinical indications for genetic testing for most dyslipidemias are not precisely defined and there are no clearly established guideline recommendations. In patients with severe low-density lipoprotein cholesterol (LDL-C) levels, the genetic analysis can be used to guide diagnostic and therapeutic approach, while in severe hypertriglyceridemia (HTG), clinicians can rely on triglyceride level rather than a genotype along the treatment pathway. Genetic testing increases diagnostic accuracy and risk stratification, access and adherence to specialty therapies, and cost-effectiveness of cascade testing. A shared decision-making model between the provider and the patient is essential as patient values, preferences and clinical characteristics play a very strong role. SUMMARY: Genetic testing for lipid disorders is currently underutilized in clinical practice. However, it should be selectively used, according to the type of dyslipidemia and when the benefits overcome costs.

Non-alcoholic Fatty Liver Disease in Children.

Non-alcoholic fatty liver disease (NAFLD) has become the most common liver disease in the paediatric age. The growing prevalence of NAFLD and its advanced phenotype, non-alcoholic steatohepatitis (NASH), in children and adolescents parallels similar trends in obesity and type 2 diabetes mellitus. This trend may have serious long-term implications, including hepatic and extra-hepatic morbidity and mortality, the latter being related mostly due to cardiovascular disease and malignancies. This narrative review, which included 236 articles, summarizes current evidence on paediatric NAFLD, including pathophysiology, risk factors, complications, prevention and treatment (existing and emerging). Early recognition of NAFLD followed by timely and adequate management seems to be important on an individual basis. A global "call to action" regarding paediatric NAFLD seems appropriate to mitigate the burden of this disease.

Nonsteroidal Anti-Inflammatory Drug-Induced Colopathy in a Colorectal Cancer Screening Program.

OBJECTIVE: To present a case of colopathy related to the use of diclofenac in a patient with a positive immunochemical faecal occult blood test (iFOBT) and to discuss the influence of nonsteroidal anti-inflammatory drugs (NSAIDs) on iFOBT specificity. CLINICAL PRESENTATION AND INTERVENTION: A colonoscopy in a 56-year-old female presenting with a positive iFOBT revealed diaphragm-like strictures and ulcers in the right colon. While carrying out a detailed retrospective interview, she reported a chronic backache requiring long-term NSAID treatment. CONCLUSION: No association has been established between chronic use of NSAID and a false-positive iFOBT. There is no need to stop NSAIDs before performing an iFOBT in a colorectal cancer screening program.

Relationship between 25-hydroxyvitamin D and newly diagnosed type 2 diabetes mellitus in postmenopausal women with osteoporosis.

OBJECTIVE: The aim of the study was to determine a correlation between the level of 25-hydroxivitamin D (25-OHD) and the incidence of diabetes. SUBJECTS AND METHODS: In this prospective observational study, 97 (out of an initial 100) Caucasian women with osteoporosis (OS) were monitored for 2 years for the incidence of diabetes. Logistic regression analysis was used to establish an association with and prognostic value of vitamin D for the onset of type 2 diabetes mellitus, as well as insulin resistance, body mass index (BMI), total cholesterol and triglyceride levels in the development of diabetes. The serum level of 25-OHD was measured using immunochemiluminescence in March and April 2011. RESULTS: Of the 97 patients (mean age 51.64 ± 5.86 years, range 36.0-73.0), 21 (21.65%) were diagnosed with diabetes during the observational period. The study showed that the 22 patients with low levels of vitamin D were more susceptible to diabetes (odds ratio = 0.958). The cut-off value of vitamin D using a receiver operating characteristic curve was 62.36 nmol/l with a sensitivity of 39.5% and a specificity of 90.5%. With an increase in BMI and triglyceride levels, women were, respectively, 1,591 and 2,821 times more likely to get diabetes than those without an increase. CONCLUSION: This study showed that the patients with postmenopausal OS and hypovitaminosis D, besides a high BMI, elevated triglyceride levels and insulin resistance, had an increased risk of developing type 2 diabetes.