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Last updated:
6/25/25
Years published: 2012, 2015, 2025
NORD gratefully acknowledges Abhimanyu Garg, MD, Professor of Internal Medicine, Chief, Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Distinguished Chair in Human Nutrition Research, Center for Human Nutrition, UT Southwestern Medical Center at Dallas, for assistance in the preparation of this report.
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Summary
Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective, progressive loss of body fat (adipose tissue) from various areas of the body. Individuals with FPL often have reduced subcutaneous fat in the arms and legs and the head, and trunk regions may or may not have loss of fat. Conversely, affected individuals may also have excess subcutaneous fat accumulation in other areas of the body, especially the neck, face and intra-abdominal regions. Subcutaneous fat is the fatty or adipose tissue layer that lies directly beneath the skin. In most people, adipose tissue loss begins during early childhood or puberty. FPL can be associated with a variety of metabolic abnormalities. The extent of adipose tissue loss usually determines the severity of the associated metabolic complications. These complications can include an inability to properly break down a simple sugar known as glucose (glucose intolerance), elevated levels of triglycerides (fat) in the blood (hypertriglyceridemia) and diabetes. Additional findings can occur in some people. Ten different subtypes of FPL have been identified. Nine of these subtypes are caused by changes (variants) in a different gene. Six forms of FPL are inherited in an autosomal dominant pattern and three forms are inherited in an autosomal recessive pattern. The causal gene and mode of inheritance of FPL, Kobberling variety is unknown.
Introduction
Lipodystrophy is a general term for a group of disorders that are characterized by complete (generalized) or partial loss of adipose tissue. In addition to FPL, there are other inherited forms of lipodystrophy. Some forms of lipodystrophy are acquired at some point during life. The degree of severity and the specific areas of the body affected can vary greatly among the lipodystrophies. Some people may only develop cosmetic problems; others can develop life-threatening complications. The loss of adipose tissue that characterizes these disorders is sometimes referred to as lipoatrophy rather than lipodystrophy by some physicians. FPL was first described in the medical literature in the 1970s independently by three groups of physicians, including Doctors Ozer, Kobberling and Dunnigan.
FPL includes several subtypes differentiated by the gene involved. The specific symptoms, severity and prognosis can vary greatly depending upon the specific type of FPL and the presence and extent of associated symptoms. The specific symptoms and severity can also vary among individuals with the same subtype and even among members of the same family. In addition, some subtypes of FPL have only been reported in a handful of individuals, which prevents doctors from developing an accurate picture of associated symptoms, severity and prognosis. Therefore, it is important to note that affected individuals will not have all the symptoms discussed below. Affected individuals should talk to their doctor and medical team about their specific case, associated symptoms and overall prognosis.
Common symptoms of FPL include selective, progressive loss of subcutaneous fat in the arms and legs and chest and trunk regions, abnormal accumulation of subcutaneous fat in other areas, and a variety of metabolic complications. Generally, females are more severely affected than males by the metabolic complications of FPL. Additional symptoms including those affecting the liver or heart may also occur.
FPL Type 1, Kobberling type (FPL1)
This form of FPL has only been reported in a handful of people. The symptoms are similar to those seen in FPL2, Dunnigan lipodystrophy. However, fat loss is generally confined to the arms and legs. Fat loss is usually more prominent on the lower (distal) portions of the arms and legs. Affected people have normal or slightly increased fat distribution on the face, neck and trunk. Some affected people may develop excess belly fat (central obesity). Metabolic abnormalities including insulin resistance, high blood pressure (hypertension) and severe hypertriglyceridemia have also been reported. This form of FPL has only been reported in females.
FPL Type 2, Dunnigan lipodystrophy due to LMNA gene variants (FPL2)
This is the most common form of FPL, particularly among whites and has been reported in approximately 700 people. Affected people usually have normal fat distribution during early childhood. However, around the time of puberty, fat in the arms and legs and trunk is gradually lost. In females, the loss of fat may be most striking in the buttocks and hips. At this time, fat may accumulate in other areas of the body including the face, causing a double chin, and the neck and upper back between the shoulder blades, causing a hump. Affected people may have a round face similar to individuals with Cushing’s syndrome. This characteristic distribution of fat and the overall muscular appearance makes the disorder more easily recognizable in females than in males.
Insulin resistance is common and may be associated with a condition called acanthosis nigricans, a skin condition characterized by abnormally increased coloration (hyperpigmentation) and “velvety” thickening (hyperkeratosis) of the skin, particularly of skin fold regions such as of the neck and groin and under the arms (axillae). An enlarged liver (hepatomegaly) is also common. Hepatomegaly is caused by the accumulation of fat in the liver (fatty liver or steatosis). Progressive accumulation of fat in the liver can cause scarring and damage to the liver (cirrhosis) and eventually, liver dysfunction.
Other complications of insulin resistance may occur including glucose intolerance, hypertriglyceridemia, and diabetes. These symptoms are often very difficult to control, and diabetes is often severe. Affected females are at a greater risk of developing diabetes than affected males and often have more severe metabolic complications. Some people may have extreme hypertriglyceridemia, resulting in episodes of acute inflammation of the pancreas (pancreatitis). Pancreatitis can be associated with abdominal pain, chills, jaundice, weakness, sweating, vomiting and weight loss.
After puberty, some females with FPL2 may develop polycystic ovary syndrome (PCOS), a complex of symptoms that are not always present. PCOS is often characterized by an imbalance of sex hormones as affected females may have too much androgen, a male hormone, in the body. PCOS can result in irregular menstrual periods or a lack of menstruation, oily skin that is prone to acne, cysts on the ovaries, failure of the ovary to release eggs and mild hirsutism (a male pattern of hair growth). Hair may develop on the upper lip, chin and other parts of the body.
People with FPL2 are predisposed to coronary artery disease and other types of atherosclerotic vascular disease. People who have a specific variant of the LMNA gene are at an increased risk of developing disease of the heart muscle (cardiomyopathy) which can result in congestive heart failure and irregular heartbeats (cardiac arrhythmias) such as heart block or atrial fibrillation. Some people with FPL2 also develop muscular dystrophies (diseases of muscles causing loss of strength and joint contractures).
FPL Type 3, due to PPARG variants (FPL3)
This form of FPL has only been reported in approximately 100 people. The fat loss is generally milder than that in FPL2, Dunnigan lipodystrophy but these people may have more severe metabolic abnormalities. Consequently, it is believed that many cases may go undiagnosed. Fat loss is more prominent in the calves and forearms than in the upper arms and thighs. Diabetes, hypertriglyceridemia, hypertension, fatty liver, pancreatitis and excessive hair growth (hirsutism) have also been reported. Metabolic abnormalities are more prominent than lipodystrophy in this form of the disorder.
FPL Type 4, due to PLIN1 variants (FPL4)
This form of FPL has only been reported in a handful of people. Lipodystrophy is most prominent in the lower limbs and buttocks. Muscular hypertrophy may be prominent in the calves. Insulin resistance, severe hypertriglyceridemia and diabetes have also reported.
Autosomal Recessive FPL Type 5 due to CIDEC variants (FPL5)
This form of FPL has only been reported in one individual. The reported symptoms include partial lipodystrophy, severe insulin resistance, fatty liver, acanthosis nigricans and diabetes.
Autosomal Recessive FPL Type 6 due to LIPE variants (FPL6)
In this subtype, the two affected siblings from an Israeli Arab family presented with partial lipodystrophy, multiple symmetric lipomatosis (MSL) and myopathy, and novel variants (p.Glu1035) in the LIPE gene.
FPL Type 8, due to ADRA2A variants (FPL8)
This subtype of FPL has been reported in three members of an African American family who had diabetes mellitus, hypertriglyceridemia and hypertension with marked loss of subcutaneous fat from the extremities. They also had an excess accumulation of subcutaneous fat in the submental and dorsocervical regions.
Autosomal Recessive FPL Type 9 due to PLAAT3 variants (FPL9)
This subtype is characterized by generalized or partial lipodystrophy resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Some people have increased fat accumulation in the face and neck regions. People develop insulin-resistant diabetes mellitus, dyslipidemia, low HDL-cholesterol and hepatic steatosis. Symptom onset is usually in the first decade. Females tend to have excess hair growth (hirsutism) and polycystic ovary syndrome, whereas males have enlarged breasts (gynecomastia). Most people also have neurologic involvement, including demyelinating polyneuropathy and delayed development with intellectual disability.
FPL due to AKT2 variants
This subtype has been reported in a single family in which a 34-year-old female with FPL developed diabetes mellitus at 30 years of age. She had a p.R274H variant in the AKT2 gene. Her nonobese mother, maternal grandmother and a maternal uncle had the same variant, and all had markedly high levels of insulin in the blood. Her mother and maternal grandmother had an onset of diabetes mellitus in the fourth decade of life.
FPL due to NOTCH3 variants
This unique subtype of FPL has recently been reported and is distinct from the two more prevalent subtypes due to variants in LMNA and PPARG. The loss of subcutaneous fat from the upper and lower extremities is quite severe and the patients developed metabolic complications such as hypertriglyceridemia, hepatic steatosis and diabetes. Five of six affected females had diabetes and three had childhood onset of diabetes as early as 12 years of age. They had gain-of-function missense variants in the NOTCH3 gene.
FPL is caused by changes (variants) of specific genes. So far, variants in several genes that cause FPL have been identified including the LMNA, PPARG, PLIN1, AKT2, ADRA2A, and NOTCH3 genes, which cause autosomal dominant FPL and the CIDEC, LIPE, AND PLAAT3 genes, which cause autosomal recessive FPL. The gene that causes FPL1, Kobberling variety has not been identified. Some individuals with FPL do not have variants in any of these genes, suggesting that additional, as yet unidentified genes can cause the disorder.
Researchers think that various genes and gene products associated with FPL are involved with the proper creation, function and/or health of adipocytes. Adipocytes are fat cells. Each adipocyte has a lipid droplet that accounts for approximately 90% of its cell volume. An adipocyte stores fats (triglycerides) within its lipid droplet. Variants in these genes ultimately lead to a loss of adipocytes and an inability to store fat. Consequently, fat is stored in other tissues of the body such as the liver and skeletal muscle causing symptoms such as liver disease and insulin resistance. The cause of other symptoms sometimes associated with FPL such as cardiomyopathy is not fully understood. More research is necessary to understand the exact, underlying mechanisms that ultimately cause FPL and its associated symptoms.
The LMNA gene contains instructions for creating (encoding) the proteins lamin A and lamin C. These proteins are active in the nuclear lamina, a structure found within many types of cells. Variants in this gene lead to disruption of the normal functions of lamin A and lamin C. Researchers think that these variants ultimately results in premature cell death of fat cells (adipocytes) in individuals with FPL2, Dunnigan variety.
Variants of the LMNA gene have also been shown to cause a variety of other disorders (allelic disorders) including a form of mandibuloacral dysplasia, a couple forms of Emery-Dreifuss muscular dystrophy, a form of limb-girdle muscular dystrophy, a form of hereditary spastic paraplegia, a form of Charcot-Marie-Tooth disease, a form of dilated cardiomyopathy, Malouf syndrome and Hutchinson-Gilford progeria syndrome. Individuals whose symptoms overlap among these disorders have been reported in the medical literature. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)
The PPARG gene encodes for a type of protein that acts as a transcription factor known as PPAR gamma. This protein is essential for proper adipocyte cell differentiation. Cell differentiation is the process by which a less specialized or generic cell becomes a more specialized or specific cell type. FPL due to PPARG variants results from improper adipocyte cell differentiation.
The PLIN1 gene encodes for a protein known as perilipin 1. Perilipin 1 is the most abundant protein coating the surface of lipid droplets where the fat is stored within the adipose cells. Researchers think that perilipin 1 is essential for the storage of triglycerides and for the release of fatty acids from lipid droplets. Lipid droplets are organelles, specialized subunits found within cells (such as fat cells) that have specific functions. One function of lipid droplets is the storage of lipids. Perilipin is also thought to be essential for the proper formation and development of lipid droplets.
The AKT2 gene encodes for protein kinase B beta. The exact role of this protein in the body is not fully understood, although it is thought that this protein plays a role in post receptor insulin signaling and may be involved in regulating the expression of PPAR gamma (see above). The loss of adipose tissue in individuals with a variant of the AKT2 gene may be due to reduced adipocyte differentiation due to improper regulation of PPAR gamma or to dysfunctional post receptor signaling.
The ADRA2A gene encodes the main presynaptic inhibitory feedback G protein-coupled receptor (alpha-2 adrenergic receptor) regulating norepinephrine release. Activation of ADRA2A inhibits cAMP production and reduces lipolysis in adipocytes.
The NOTCH3 gene encodes for Notch receptor 3. NOTCH3 is one of four mammalian Notch receptors which play many crucial roles in developmental patterning, cell fate decisions, regulation of cell survival and proliferation. Notch signaling is important in adults for tissue maintenance and renewal.
The LIPE gene encodes for the hormone sensitive lipase (HSL) enzyme. HSL is the predominant mediator of the hydrolysis of diglycerides, cholesterol esters and retinyl esters in human white adipose tissue.
The CIDEC gene encodes for the CIDEC protein. CIDEC is expressed in the lipid droplets and plays a role in storage of fat within these structures. Variants of the CIDEC gene resulted in low levels of functional CIDEC protein, resulting in lack of ability of lipid droplets to store fat.
The PLAAT3 gene encodes for the phospholipase A and acyltransferase 3 (PLAAT3) enzyme, which releases fatty acids from the sn-1 or sn-2 position of glycerophospholipids, such as phosphatidylethanolamine and phosphatidylcholine and converting them into lysophosphatidylethanolamine and lysophosphatidylcholine, respectively.
Inheritance
Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
FPL is a rare disorder that has been reported in females more often than in males. This may be due to ascertainment bias because females are more severely affected and more easily recognized. The prevalence of FPL is estimated to be between 1 in 100,000 to 1 in 1,000,000 people in the general population. However, many cases may go misdiagnosed or undiagnosed, making it difficult to determine the true frequency of the disorder in the general population. Most individuals reported in the medical literature have been of European descent. The disorder has also been reported individuals of African and Asian Indian descent.
A diagnosis of FPL is based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. A diagnosis of FPL should be suspected in individuals who lose subcutaneous fat around puberty and gain a muscular appearance. Lipodystrophy, in general, should be suspected in individuals who are lean or “non-obese” and who present with early diabetes, severe hypertriglyceridemia, hepatic steatosis, hepatosplenomegaly, acanthosis nigricans and/or polycystic ovarian syndrome.
Clinical Testing and Workup
Although the diagnosis of lipodystrophy is primarily clinical, a variety of tests can be used to aid in the diagnosis and/or rule out other conditions. A blood chemical profile may be conducted to assess the levels of glucose, lipids, liver enzymes and uric acid.
The characteristic pattern of fat loss in the arms and legs and trunk, but fat gain in muscular fasciae can be noted on magnetic resonance imaging (MRI).
Molecular genetic testing can confirm a diagnosis of FPL in most people. Molecular genetic testing can detect variants in specific genes that cause FPL but is only available on a clinical basis for a few genes such as LMNA.
Individuals with FPL may have tests to detect and/or evaluate the presence of potential complications including heart abnormalities. Holter monitoring, echocardiography, and a stress test are conducted for individuals suspected of having cardiomyopathy or coronary heart disease. A Holter monitor is a portable device that continually monitors the heart’s rhythms. An echocardiography uses reflected sound waves to create a picture of the heart. A stress test measures the heart’s ability to respond to external stress in a controlled environment.
People with FPL may be evaluated to determine their leptin levels. Leptin is a hormone found in adipocytes. Some affected individuals have low levels of leptin.
Treatment
The treatment of FPL is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, plastic surgeons, cardiologists, endocrinologists, nutritionists and other healthcare professionals may need to systematically and comprehensively plan a child’s treatment.
Individuals with FPL and their families are encouraged to seek counseling after a diagnosis because the diagnosis can cause anxiety, stress and extreme psychological distress. Psychological support and counseling both professionally and through support groups is recommended for affected individuals and their families.
Genetic counseling is recommended for affected individuals and their families as well.
People with FPL are encouraged to follow a high carbohydrate, low-fat diet. Such a diet can improve chylomicronemia associated with acute pancreatitis. Chylomicronemia is a condition characterized by the accumulation of fatty droplets called chylomicrons in the plasma. However, such diets may also raise very low-density lipoprotein triglyceride concentration.
Because individuals with FPL have an increased risk of coronary heart disease, they should limit the intake of saturated and trans-unsaturated fats and dietary cholesterol. It is unknown whether such measures will be beneficial over the long term to reduce fatty liver or serum triglycerides levels, or whether they can improve glycemic control.
Regular exercise and maintaining a healthy weight are also encouraged to decrease the chances of developing diabetes. In individuals with FPL, exercise and reducing energy intake can is also necessary to avoid excess fat deposition and accumulation in non-lipodystrophic areas such as the face, neck and intra-abdominal region.
Individuals with extreme hypertriglyceridemia may be treated with fibric acid derivatives, statins, or n-3 polyunsaturated fatty acids.
The characteristic loss of adipose tissue in people with FPL cannot be reversed. Consequently, cosmetic surgery may be beneficial in improving appearance and management metabolic complications. Procedures such as liposuction can be performed to remove excess unwanted fat in areas where fat accumulates (e.g. chin).
In some people, liver disease associated with FPL can ultimately require a liver transplant.
Periodic cardiac examinations may be recommended for individuals with FPL to detect symptoms that can be potentially associated with the disorder including coronary heart disease and/or conduction defects. People with heart abnormalities such as heart block or atrial fibrillation may require the use of a pacemaker. In some people, a heart transplant may ultimately be necessary.
Additional therapies to treat individuals with FPL are symptomatic and supportive and follow regular, standard guidelines. Diabetes is treated with standard therapies. After the onset of diabetes, hyperglycemic drugs such as metformin and sulfonylureas may be recommended to treat hyperglycemia. Insulin can also be used to treat individuals with FPL and diabetes, although extremely high doses are often required. High blood pressure (anti-hypertensives) may also be recommended. Although drug therapy is commonly used, there have been no large clinical trials to establish the optimal use of drug therapy to treat the metabolic complications in individuals with FPL.
Although metreleptin (an analog of leptin) has been approved by the U.S. Food and Drug Administration (FDA) for treating metabolic complications in patients with generalized lipodystrophies, it is not approved for patients with FPL. An analog drug has the same or similar physical structure to another drug or chemical but differs chemically. Further research is needed to evaluate which patients with FPL may benefit from metreleptin therapy. Initial studies have shown that leptin-replacement therapy (metreleptin) has been effective in improving some of the symptoms of FPL, Dunnigan variety in individuals with low leptin levels. Currently, the availability of leptin for FPL patients is restricted to clinical trials or compassionate basis.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at UT Southwestern Medical Center at Dallas, visit the website here.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
Contact for additional information about familial partial lipodystrophy:
Abhimanyu Garg, M.D.
Professor of Internal Medicine,
Chief, Section of Nutrition and Metabolic Diseases,
Division of Endocrinology,
Distinguished Chair in Human Nutrition Research
Center for Human Nutrition,
UT Southwestern Medical Center
5323 Harry Hines Boulevard, K5.214
Dallas, TX 75390-8537
Phone: 214-648-2895
Fax: 214-648-0553
[email protected]
TEXTBOOKS
Garg A. Genetic lipodystrophies. In Pyeritz RE, Korf BR, Grody WW (eds). Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Metabolic Disorders. 7th Edition. Academic Press, Elsevier. epub. 25-48, 2021.
Garg A. Lipodystrophies and dyslipidemia. In Garg A (ed). Dyslipidemias: Pathophysiology, Evaluation and Management. Springer, New York, NY, pp 287-302, 2015.
Garg A. Familial Partial Lipodystrophy. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:323.
JOURNAL ARTICLES
Garg A, Xing C, Agarwal AK, Westfall AK, Tomchick DR, Zhang X, Xing M, Brown RJ. Gain of function NOTCH3 variants cause familial partial lipodystrophy due to activation of senescence pathways. Diabetes. 2025 Mar 1;74(3):427-438. doi: 10.2337/db24-0624. PMID: 39652711.
Vasandani C, Li X, Sekizkardes H, Brown RJ, Garg A. Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants. J Endocr Soc. 2022;6(12):bvac155. Published 2022 Oct 11. doi:10.1210/jendso/bvac155
Hussain I, Patni N, Garg A. Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease. Pathology. 2019;51(2):202-212. doi:10.1016/j.pathol.2018.11.004
Zolotov S, Xing C, Mahamid R, Shalata A, Shiekh-Ahmad M, Garg A. Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. Am J Med Genet 2017 Jan;173(1):190-194. PMID: 27862896. PMCID: PMC5788284.
Brown RJ, Araujo-Vilar D, Cheung PT, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016;101(12):4500-4511. doi:10.1210/jc.2016-2466
Diker-Cohen T, Cochran E, Gorden P, Brown RJ. Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. J Clin Endocrinol Metab. 2015 May;100(5):1802-10. doi: 10.1210/jc.2014-4491. Epub 2015 Mar 3.
Simha V, Subramanyam L, Szczepaniak L, et al. Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. J Clin Endocrinol Metab. 2012;97(3):785-792. doi:10.1210/jc.2011-2229
Gandotra S, Le Dour C, Bottomley W, et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med. 2011;364(8):740-748. doi:10.1056/NEJMoa1007487
Garg A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011;96(11):3313-3325. doi:10.1210/jc.2011-1159
Subramanyam L, Simha V, Garg A. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clin Genet. 2010;78(1):66-73. doi:10.1111/j.1399-0004.2009.01350.x
Garg A, Agarwal AK. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta. 2009;1791(6):507-513. doi:10.1016/j.bbalip.2008.12.014
Rubio-Cabezas O, Puri V, Murano I, et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med. 2009;1(5):280-287. doi:10.1002/emmm.200900037
Hegele RA, Joy TR, Al-Attar SA, Rutt BK. Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res. 2007;48(7):1433-1444. doi:10.1194/jlr.R700004-JLR200
Park JY, Javor ED, Cochran EK, DePaoli AM, Gorden P. Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. Metabolism. 2007;56(4):508-516. doi:10.1016/j.metabol.2006.11.010
Decaudain A, Vantyghem MC, Guerci B, et al. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab. 2007;92(12):4835-4844. doi:10.1210/jc.2007-0654
George S, Rochford JJ, Wolfrum C, et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science. 2004;304(5675):1325-1328. doi:10.1126/science.1096706
Agarwal AK, Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab. 2002;87(1):408-411. doi:10.1210/jcem.87.1.8290
Oral EA, Simha V, Ruiz E, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346(8):570-578. doi:10.1056/NEJMoa012437
Garg A, Sankella S, Xing C, Agarwal AK. Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. JCI Insight. 2016;1(9):e86870. doi:10.1172/jci.insight.86870
INTERNET
Acquired Partial Lipodystrophy. Orphanet. October 2019. Available at: https://www.orpha.net/en/disease/detail/79087?name=partial%20acquired%20lipo&mode=name Accessed May 28, 2025.
Lipodystrophy and Adipose Tissue Disorders. UTSouthwestern Medical Center. Available at https://utswmed.org/doctors/abhimanyu-garg/lipodystrophy-and-adipose-tissue-disorders/?_ga=2.140515444.773001568.1748427276-1089408249.1748427276 Accessed May 25, 2025.
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