Genetic basis of hypertriglyceridemia.

The development of massive sequencing techniques and guidelines for assessing the pathogenicity of variants are allowing us the identification of new cases of familial chylomicronemia syndrome (FCS) mostly in the LPL gene, less frequently in GPIHBP1 and APOA5, and with even fewer cases in LMF1 and APOC2. From the included studies, it can be deduced that, in cases with multifactorial chylomicronemia syndrome (MCS), both loss-of-function variants and common variants in canonical genes for FCH contribute to the manifestation of this other form of chylomicronemia. Other common and rare variants in other triglyceride metabolism genes have been identified in MCS patients, although their real impact on the development of severe hypertriglyceridemia is unknown.

Familial chylomicronemia: New perspectives.

Familial chylomicronemia syndrome (FCS) is a very rare, underdiagnosed disorder that can cause abdominal pain and recurrent pancreatitis from childhood -potentially life-threatening- and chronic complications such as diabetes mellitus and exocrine pancreatic insufficiency. FCS affects the quality of life and mental health of those who suffer from it, aspects that must be taken into account in its treatment, based on a strict low-fat diet, which is difficult to adhere to and persist. People with FCS lack the lipolytic capacity to hydrolyze triglycerides (TG) and have a minimal or null response to conventional lipid-lowering treatments.

Multifactorial chylomicronemia: keys to detecting severe forms.

Multifactorial chylomicronemia associated with multiple comorbidities, drugs and habits is much more common than familial chylomicronemia, an autosomal recessive disease that can be considered as "rare disease". Like the rest of hypertriglyceridemias, chylomicronemias could be classified as primary or monogenic and secondary in which, on the basis of polygenic predisposition, there is concomitant exposure to multiple triggering factors. In this brief revision, we will review its causes and management as well as the keys to its differential diagnosis of the Multifactorial Chylomicronemia.

Structural and functional brain changes in middle-aged type 2 diabetic patients: a cross-sectional study.

Background: Type 2 diabetes mellitus (T2DM) is an emerging risk factor for cognitive impairment. Whether this impairment is a direct effect of this metabolic disorder on brain function, a consequence of vascular disease, or both, remains unknown. Structural and functional neuroimaging studies in patients with T2DM could help to elucidate this question.