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.
Lisa Lesko is a Family Medicine provider in Blue Hill, Maine. Dr. Lesko and is rated as an Experienced provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. Her top areas of expertise are Type B Insulin Resistance Syndrome, Abdominal Obesity Metabolic Syndrome, Mitochondrial Complex V Deficiency, and Cytochrome C Oxidase Deficiency. Dr. Lesko is currently accepting new patients.
York Hospital
Hussein Raef is an Endocrinologist and a Hospital Medicine provider in York, Maine. Dr. Raef and is rated as an Experienced provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. His top areas of expertise are Neuroendocrine Tumor, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia, and Congenital Generalized Lipodystrophy.
Houlton Regional Hospital
Solomon Olabiyi is an Internal Medicine provider in Houlton, Maine. Dr. Olabiyi and is rated as an Experienced provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. His top areas of expertise are Pericarditis, Acute Kidney Failure, Type 2 Diabetes (T2D), and Apoplexy.
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
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.
Published Date: January 01, 2019
Published By: National Institutes of Health