Familial Lipoprotein Lipase Deficiency Overview
Learn About Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.
Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break down fats called triglycerides, which are carried by molecules called lipoproteins.
This condition affects about 1 per million people worldwide. It is much more common in certain areas of the province of Quebec, Canada.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Daniel Gaudet practices in Montreal, Canada. Mr. Gaudet is rated as an Elite expert by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. His top areas of expertise are Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia, High Cholesterol, and Familial Lipoprotein Lipase Deficiency.
Diane Brisson practices in Chicoutimi, Canada. Ms. Brisson is rated as an Elite expert by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. Her top areas of expertise are Apolipoprotein C2 Deficiency, Familial Lipoprotein Lipase Deficiency, High Cholesterol, and Familial Hypertriglyceridemia.
Joseph Witztum is an Endocrinologist in San Diego, California. Dr. Witztum is rated as an Elite provider by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. His top areas of expertise are Apolipoprotein C2 Deficiency, Familial Lipoprotein Lipase Deficiency, Familial Hypertriglyceridemia, and Familial Hypercholesterolemia.
Summary: The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and immunogenicity of single doses of RN0361 in Adult healthy subjects and Adult Hypertriglyceridemic Subjects.
Summary: Type I hyperlipoproteinemia (T1HLP, also known as familial chylomicronemia syndrome or FCS) is a rare diseasewhere the blood triglycerides (fats) are very high. It is caused by lack of certain enzymes and proteins in the bodythat are important in disposing circulating fats from blood. Treatment of T1HLP patients who have very high levels of blood fats (≥ 1,000 mg/dL) is challenging as conventional...
Published Date: February 01, 2015
Published By: National Institutes of Health