Endocrine Abstracts

Background: Cystic fibrosis (CF) is a genetic disorder in which a dysfunctional cystic fibrosis transmembrane regulator (CFTR) chloride channel can result in multimorbidity, including severe respiratory disease and reduced pancreatic exocrine secretion and diabetes. Recently, CFTR modulator therapy, has emerged with the potential of improving respiratory function and remission of diabetes. The effect of CFTR modulator therapy on pancreatic function in patients without preexist...

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...