Familial Lipoprotein Lipase DeficiencySymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in La Jolla, California. Dr. Witztum is rated as an Elite provider by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Apolipoprotein C2 Deficiency, Familial Lipoprotein Lipase Deficiency, Familial Hypertriglyceridemia, and Antigen-Peptide-Transporter 2 Deficiency.
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Sotirios Tsimikas is a Cardiologist practicing medicine in La Jolla,, California. Dr. Tsimikas is rated as an Elite provider by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Apolipoprotein C2 Deficiency, Familial Lipoprotein Lipase Deficiency, Percutaneous Coronary Intervention (PCI), and Stent Placement.
Baylor Medicine Atherosclerosis
Christie Ballantyne is a Cardiologist practicing medicine in Houston, Texas. He has been practicing medicine for over 44 years. Dr. Ballantyne is rated as an Elite provider by MediFind in the treatment of Familial Lipoprotein Lipase Deficiency. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Familial Hypertriglyceridemia, High Cholesterol, Atherosclerosis, Coronary Artery Bypass Graft (CABG), and Heart Bypass Surgery.
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...
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).
Published Date: February 01, 2015
Published By: National Institutes of Health