Endocrine Abstracts

Introduction: Differentiation between familial chylomicronemia syndrome (FCS), a rare hypertriglyceridemia, and severe hypertriglyceridemia (sHTG; non-FCS) is challenging due to overlap in triglyceride (TG) levels and symptomology but important in disease management. Clinical characteristics that allow for reliable differentiation may exist in the presenting clinical features and primary diagnostic testing. The objective of this analysis was to assess whether readily obtainabl...

Introduction: Familial Partial Lipodystrophies (FPLD) are rare genetic disorders characterized by marked loss of subcutaneous fat from the extremities with variable fat loss from the face and trunk. Patients with FPLD develop metabolic abnormalities including hypertriglyceridemia, insulin resistance, and diabetes mellitus, which are difficult to manage with conventional therapies including fibrates, statins and insulin. The BROADEN study evaluated the efficacy a...

Introduction: Familial Partial Lipodystrophy (FPLD) is a rare genetic disorder characterized by marked loss of subcutaneous adipose tissue from the extremities and is associated with a variety of metabolic abnormalities. While phenotypic elements of the disorder can vary across genotypes, symptomatic presentation, disease severity, and onset can also vary among individuals with the same disease-causing variant, or even among family members. Due to this variabili...