Familial Partial LipodystrophySymptoms, Doctors, Treatments, Advances & More
Learn About Familial Partial Lipodystrophy
Familial partial lipodystrophy is a rare condition that is characterized by the loss of fatty (adipose) tissue that is found underneath the skin (subcutaneous). Affected individuals typically lose subcutaneous adipose tissue from the arms; legs; and the truncal region, which includes the chest, abdomen, and hips. Familial partial lipodystrophy is part of a group of disorders known as lipodystrophies, which can cause the loss of varying amounts of adipose tissue. The severity of familial partial lipodystrophy and the specific signs and symptoms that are seen in affected individuals can vary, even among members of the same family.
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in several different genes cause familial partial lipodystrophy. Pathogenic variants in the lamin A/C (LMNA) gene cause familial partial lipodystrophy type 2. The other forms of the disorder are caused by pathogenic variants in other genes.
Familial partial lipodystrophy is a rare disease that affects 1 in 7,000 to 2.3 in 1 million people. However, the exact prevalence is difficult to determine, as many people with this condition likely do not receive a diagnosis. Women tend to receive a diagnosis of familial partial lipodystrophy more often than men. This may be because the loss of fat from the arms, legs, and hips is more easily recognized in women or because complications, such as diabetes mellitus and hypertriglyceridemia, tend to be more severe 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 pathogenic variant from a parent. Other cases result from a new (de novo) pathogenic variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have 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: August 25, 2026
Published By: National Institutes of Health