Congenital Generalized Lipodystrophy Overview
Learn About Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.
Mutations in the AGPAT2, BSCL2, CAV1, and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. These abnormalities of adipose tissue disrupt hormones and affect many of the body's organs, resulting in the varied signs and symptoms of congenital generalized lipodystrophy.
Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.
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.
Regents Of The University Of Michigan
Elif Oral is an Endocrinologist in Ann Arbor, Michigan. Dr. Oral is rated as an Elite provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. Her top areas of expertise are Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, Gastric Bypass, and Sleeve Gastrectomy.
University Of Texas Southwestern Medical Center At Dallas
Abhimanyu Garg is an Endocrinologist in Dallas, Texas. Dr. Garg has been practicing medicine for over 43 years and is rated as an Elite provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. His top areas of expertise are Acrorenal Mandibular Syndrome, Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, and Gastric Bypass.
Baris Akinci practices in Dokuz Eylul, Turkey. Mr. Akinci is rated as an Elite expert by MediFind in the treatment of Congenital Generalized Lipodystrophy. His top areas of expertise are Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Gigantism, and Familial Hypertriglyceridemia.
Background: \- Generalized lipodystrophy can cause high blood fat levels and resistance to insulin. This can lead to health problems including diabetes. Researchers have found that the drug metreleptin improves health in people with this disease.
Summary: This is an open-label, Phase 3b study to evaluate effectiveness, safety and pharmacokinetic parameters of metreleptin in patients under 6 years of age with generalised lipodystrophy and associated diabetes mellitus and/or hypertriglyceridaemia
Published Date: January 01, 2019
Published By: National Institutes of Health