Journal of internal medicine
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Review
Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia.
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of chylomicron metabolism causing severe elevation of triglyceride (TG) levels (>10 mmol L-1 ). This condition is associated with a significant risk of recurrent acute pancreatitis (AP). AP caused by hypertriglyceridaemia (HTG) has been associated with a worse prognosis and higher mortality rates compared to pancreatitis of other aetiology. ⋯ Available treatment options to lower triglycerides such as fibrates or omega-3 fatty acids are not efficacious in FCS patients. Currently, the cornerstone of treatment remains a lifelong very low-fat diet, which prevents the formation of chylomicrons. Finally, inhibitors of apo C-III and ANGPTL3 are in development and may eventually constitute additional treatment options for FCS patients.
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Over the past three decades, considerable effort has been dedicated to quantifying the pace of ageing yet identifying the most essential metrics of ageing remains challenging due to lack of comprehensive measurements and heterogeneity of the ageing processes. Most of the previously proposed metrics of ageing have been emerged from cross-sectional associations with chronological age and predictive accuracy of mortality, thus lacking a conceptual model of functional or phenotypic domains. ⋯ We explored the longitudinal trajectories of key variables within these phenotypes using linear mixed-effects models and more than 10 years of data. Understanding the longitudinal trajectories across these domains in the BLSA provides a reference for researchers, informs future refinement of the phenotypic ageing framework and establishes a solid foundation for future models of biological ageing.
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The antiphospholipid syndrome (APS) was fully recognized as a clinical entity in the early 1980s. Still, more than 30 years later, the epidemiology of APS is not well described, and furthermore, APS remains a challenge in terms of both diagnostic issues and clinical praxis involving a wide range of specialties. To date, there are no diagnostic criteria for APS. ⋯ However, recent data demonstrate a relatively high prevalence of aPL also in patients from the general population who suffer from vascular occlusions or pregnancy complications. It is important that these patients are recognized by the general health care since APS is a treatable condition. This review aims to summarize the present knowledge on the history, pathogenesis, clinical manifestations and treatment of APS in order to urge a wide range of clinicians to consider comprehensive assessment of all patients where the diagnosis APS may be conceivable.