Colon cancer in a 12-year-old girl with hypertriglyceridemia

Colorectal cancer is usually considered a disease of the elderly; however, in a small fraction of patients (2%-3% of all affected individuals), colorectal malignancies may develop earlier. The reasons whereby some individuals develop colorectal cancer at a young age are poorly understood. In a 12-year-old girl, a malignancy was diagnosed in the ascending colon. There was no familial history of Lynch syndrome or familial adenomatous polyposis. The metabolic profile of the patient revealed hypertriglyceridemia and low high-density lipoprotein cholesterol levels at nine years, then diagnosed as familial hypertriglyceridemia due to a constitutional mutation in the APOA5 gene (c.427delC). Moreover, variants possibly increasing the risk of cancer were detected in MSH6 (c.3438+11_3438+14delCTTA, intron 5) and APC (I1307K). The patient showed a rather unusual dietary pattern, since her basic alimentation from weaning consisted almost exclusively of meat homogenates and, subsequently, roasted meat or cutlets. Other foods, including fish, vegetables, sweets, and pasta, were refused. In this case, genetic and environmental factors could have acted in a particularly accelerated manner. Indeed, the genetic background of the patient (familial hypertriglyceridemia and polymorphisms predisposing to colorectal cancer) may have favored a dietary-driven colorectal carcinogenesis, resulting in an extremely early onset development of malignancy.

MAFLD AND NAFLD: is there the need for redefining the risk of cardiovascular disease and mortality?

Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide and is characterized by a high burden of metabolic alterations. It exposes patients to increased morbidity and mortality, mostly driven by cardiovascular (CV) complications. Despite its large use, the nomenclature NAFLD has some limitations, due to the exclusion of patients with hepatic fat and concomitant other liver diseases or moderate alcohol consumption possibly contributing to hepatic damage. Therefore, a new and more inclusive definition of fatty liver has recently been proposed, namely metabolic associated fatty liver disease (MAFLD). It comprises patients with hepatic steatosis and associated metabolic comorbidities, without exclusion of other liver diseases. As for the nature of the new definition of MAFLD, it could be speculated that an increased risk of cardiovascular complications should be expected. Therefore, our review aims at answering the question about possible differences in cardiovascular risk and mortality in patients with NAFLD compared to MAFLD. We selected 8 studies out of 1130 by searching in the PubMed database. Data from literature seem to report an increased risk of CV events and mortality in patients affected by MAFLD compared to NAFLD, possibly due to the metabolic burden and coexistence of other liver diseases typical of MAFLD. However, further prospective studies are warranted to confirm this preliminary hypothesis.