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.
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Joseph Witztum is an Endocrinologist in La Jolla, 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 Antigen-Peptide-Transporter 2 Deficiency.
Baylor Medicine Atherosclerosis
Christie Ballantyne is a Cardiologist in Houston, Texas. Dr. Ballantyne is rated as an Elite provider by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. His top areas of expertise are Familial Hypertriglyceridemia, High Cholesterol, Atherosclerosis, Coronary Artery Bypass Graft (CABG), and Heart Bypass Surgery.
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 High Cholesterol, Familial Lipoprotein Lipase Deficiency, Apolipoprotein C2 Deficiency, and Familial Hypertriglyceridemia.
Summary: This is an open-label, single-arm, dose-escalation Phase I clinical trial to evaluate the safety, tolerability, pharmacodynamics (PD), and pharmacokinetics (PK) of CS-121, an in vivo base editing therapy delivered by lipid nanoparticles targeting APOC3, in adult participants (18-55 years) with familial chylomicronemia syndrome (FCS).
Summary: Lipoprotein lipase (LPL) is an enzyme that plays an important role in removing triglycerides (TG) (molecules that transport dietary fat) from the blood. Patients with LPL deficiency (LPLD) display during their whole life very high plasma TG levels often associated with episodes of postprandial abdominal pain, malaise, blurred vision, dizziness (hyperchylomicronemia syndrome) that may lead to recur...
Published Date: February 01, 2015
Published By: National Institutes of Health