Familial Partial LipodystrophySymptoms, Doctors, Treatments, Advances & More
Learn About Familial Partial Lipodystrophy
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.
Familial partial lipodystrophy can be caused by mutations in several genes. Type 2 results from mutations in the LMNA gene. The other, less common forms of the disorder are caused by mutations in different genes.
Familial partial lipodystrophy is a rare disease, affecting an estimated 1 in 1 million people overall. Type 2 is the most common form, with more than 500 cases reported in the medical literature. Women tend to be diagnosed with familial partial lipodystrophy more often than men, probably because a loss of fat from the hips and limbs is more easily recognized in women, and complications such as diabetes and hypertriglyceridemia occur more commonly in women.
Most cases of familial partial lipodystrophy, including type 2, are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Domino's Farms
Dr. Elif Oral is a professor in the Division of Metabolism, Endocrinology and Diabetes (MEND) at the University of Michigan. She completed her medical education in her home country of Turkey at the University of Istanbul. In 1996, she completed her residency in Internal Medicine at Sinai Hospital Detroit (Michigan). She then completed a fellowship in Endocrinology, Metabolism and Diabetes at the National Institute of Health, where she also chose to stay as a Senior Fellow under the mentorship of Drs SimeonTaylor and Phillip Gorden in in the Diabetes Branch of NIDDK.Since joining the University of Michigan in 2002 as an Assistant Professor of Medicine, along with her regular faculty responsibilities, Dr. Oral also completed a Masters of Science Degree in Clinical Research Design and Biostatistics at the School of Public Health. Her clinical interests are in insulin resistance, obesity, lipid disorders, and diabetes.Dr Oral's research focuses on the importance of adipocytes in human metabolism and adipocyte hormones such as leptin. She is best known for her work showing the remarkable efficacy of leptin in rare lipodystrophy syndromes. Metreleptin received approval by the FDA (2014) and EMA (2016) as a treatment for lipodystrophy owing to a large part to her original vision and work. These studies provided the basis for her current work with three big goals: identification of novel metabolic diseases, discovery of new disease mechanisms and finding treatments for patients afflicted with these disorders. In addition to her roles as physician, educator, and researcher, Dr Oral is also the director of two programs at MEND: Atypical Diabetes Program and Obesity and Metabolic Disorders Program. She directed the Post-Bariatric Surgery Care Program from 2012 to 2021 and continues to conduct research on the cohort of patients who had bariatric surgery performed in the Michigan Bariatric Surgery program. Dr. Oral is rated as an Elite provider by MediFind in the treatment of Familial Partial Lipodystrophy. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, Gastric Bypass, and Sleeve Gastrectomy. Dr. Oral is board certified in Endocrinology, Diabetes & Metabolism.
University Of Texas Southwestern Medical Center
Abhimanyu Garg is an Endocrinologist practicing medicine in Dallas, Texas. Dr. Garg is rated as an Elite provider by MediFind in the treatment of Familial Partial Lipodystrophy. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Acrorenal Mandibular Syndrome, Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, and Gastric Bypass.
Baris Akinci practices practicing medicine in Dokuz Eylul, Turkey. Mr. Akinci is rated as an Elite expert by MediFind in the treatment of Familial Partial Lipodystrophy. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Gigantism, and Familial Hypertriglyceridemia.
Background: People with familial partial lipodystrophy (FPLD) do not store fat in the body normally. This can lead to serious illnesses such as diabetes and heart disease. To learn more about FPLD, researchers want to compare the fat tissue in people with this disease to the fat tissue of healthy people.
Summary: This Phase 3 study is an Open Label Extension of the APG-20 Study To Evaluate the Long-term Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects with Partial Lipodystrophy
Published Date: September 01, 2016
Published By: National Institutes of Health