596 results match your criteria Lipodystrophy Generalized


Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X gene variant.

Clin Diabetes Endocrinol 2020 14;6. Epub 2020 May 14.

Endocrinology Research Centre, 11, ulitsa Dmitriya Ulianova, Moscow, Russian Federation 117036 Russia.

Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the lack of adipose tissue and metabolic complications with predominantly autosomal recessive inheritance. There are 6 different genes known to cause CGL with 4 main types recognized to date, which differ by the degree of fat loss, association with mental retardation and metabolic disorders, with CGL type 1 and 2 being the most common. Twenty seven cases of СGL type 4 from Japan, Oman, UK, Turkey, Mexico, Saudi Arabia, USA were reported previously. Read More

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http://dx.doi.org/10.1186/s40842-020-00095-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227336PMC

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Neurol Sci 2020 May 21. Epub 2020 May 21.

Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.

Introduction: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed.

Case Report: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Read More

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http://dx.doi.org/10.1007/s10072-020-04418-1DOI Listing

Familial Partial Lipodystrophy (FPLD): Recent Insights.

Diabetes Metab Syndr Obes 2020 6;13:1531-1544. Epub 2020 May 6.

Department of Endocrinology, University of Ioannina, Ioannina, Greece.

Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia and hepatic steatosis being the cardinal metabolic features. The severity of the metabolic derangements is in proportion with the degree of lipoatrophy. Read More

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http://dx.doi.org/10.2147/DMSO.S206053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224169PMC

A Rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.

Clin Endocrinol (Oxf) 2020 May 15. Epub 2020 May 15.

Center for prevention and treatment of atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

Herein, we report a phenotypic and genetic evaluation of a consanguineous family with Congenital generalized lipodystrophy (CGL). Lipodystrophies are acquired or inherited disorders characterized by loss of adipose tissue, with distribution that is either generalized or partial. CGL is characterized by nearly complete absence of adipose tissue from birth. Read More

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http://dx.doi.org/10.1111/cen.14223DOI Listing

The Immune System in Cushing's Syndrome.

Trends Endocrinol Metab 2020 May 6. Epub 2020 May 6.

Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy. Electronic address:

Cushing's syndrome (CS), or chronic hypercortisolism, induces a variety of alterations in the immune system, often leading to severe clinical complications such as sepsis and opportunistic infections. Prolonged exposure to high levels of glucocorticoids (GC), changes in the circadian rhythm, and the comorbidities associated therewith all combine to cause profound changes in the immune profile of affected patients. While traditionally associated with generalized immune suppression, such changes actually comprise a much more complex scenario, sharing traits with chronic inflammatory disorders. Read More

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http://dx.doi.org/10.1016/j.tem.2020.04.004DOI Listing
May 2020
9.392 Impact Factor

Leu124Serfs*26, a novel mutation in congenital generalized lipodystrophy with early cardiovascular complications.

Diabetol Metab Syndr 2020 6;12:28. Epub 2020 Apr 6.

1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.

Background: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by or gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in (p. Read More

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http://dx.doi.org/10.1186/s13098-020-00538-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137278PMC

Looking at New Unexpected Disease Targets in -Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.

Cells 2020 Mar 20;9(3). Epub 2020 Mar 20.

Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France.

Variants in , encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and/or valvulopathy in lipodystrophic and/or progeroid laminopathies. We report unexpected cardiovascular phenotypes in patients with -associated lipodystrophies, illustrating the complex multitissular pathophysiology of the disease and the need for specific cardiovascular investigations in affected patients. Read More

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http://dx.doi.org/10.3390/cells9030765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140635PMC

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

Mol Med Rep 2020 Jun 23;21(6):2296-2302. Epub 2020 Mar 23.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.

Congenital generalized lipodystrophy (CGL) is a clinically and genetically heterogeneous condition with autosomal recessive inheritance. CGL is classified into four subtypes on the basis of causative genes. This study reported on a 2‑month‑old male infant diagnosed with CGL with generalized lipoatrophy and skin hyperpigmentation. Read More

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http://dx.doi.org/10.3892/mmr.2020.11036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185175PMC
June 2020
1.484 Impact Factor

Cardiac Alterations in Patients with Familial Lipodystrophy.

Arq Bras Cardiol 2020 02;114(2):305-312

Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto - Centro de Cardiologia, Ribeirão Preto, SP - Brazil.

Familial lipodystrophy is a rare genetic condition in which individuals have, besides metabolic changes and body fat deposits, a type of cardiomyopathy that has not been well studied. Many of the patients develop cardiovascular changes, the most commonly reported in the literature being the expression of a type of hypertrophic cardiomyopathy. This article, presented as a bibliographic review, reviews the clinical and cardiovascular imaging aspects in this scenario of cardiomyopathy in a rare metabolic disease, based on the latest scientific evidence published in the area. Read More

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http://dx.doi.org/10.36660/abc.20190016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077563PMC
February 2020

High prevalence of congenital generalized lipodystrophy in Piura, Peru.

Intractable Rare Dis Res 2020 Feb;9(1):58-60

Sociedad Científica de Estudiantes de Medicina de la Universidad Nacional de Piura, Perú.

Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There are several case reports of patients with CGL in Piura, a region in northern Peru; however its regional prevalence is unknown. The objective was to determine the prevalence of CGL in the region of Piura, Peru during the years 2000-2017. Read More

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http://dx.doi.org/10.5582/irdr.2020.01004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062602PMC
February 2020

[Clinical presentation and treatment of primary lipodystrophies].

Rev Med Chil 2019 Nov;147(11):1449-1457

Departamento de Nutrición, Diabetes y Metabolismo, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. Read More

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http://dx.doi.org/10.4067/S0034-98872019001101449DOI Listing
November 2019
0.373 Impact Factor

Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).

Middle East Afr J Ophthalmol 2019 Oct-Dec;26(4):250-252. Epub 2020 Jan 29.

Vitreoretinal and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Congenital lipodystrophy syndromes are characterized by a paucity of adipose tissue and are associated with metabolic abnormalities including insulin resistance, diabetes mellitus, and severe hypertriglyceridemia. Herein, we present a case of proliferative diabetic retinopathy with an attack of anterior uveitis in a young female with congenital generalized lipodystrophy - Berardinelli-Seip syndrome. To the best of our knowledge, this is the first description of ocular involvement in Berardinelli-Seip syndrome. Read More

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http://dx.doi.org/10.4103/meajo.MEAJO_94_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034154PMC

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Front Endocrinol (Lausanne) 2020 14;11:39. Epub 2020 Feb 14.

Obesity and Lipodystrophy Center at Endocrinology Unit, University Hospital of Pisa, Pisa, Italy.

Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in , encoding 1-acylglycerol-3phosphate-O-acyltransferase β (recently renamed lysophosphatidic acid acyltransferase beta), which catalyzes the transformation of lysophosphatidic acid in phosphatidic acid, the precursor of glycerophospholipids and triglycerides. BSCL1 is an autosomal recessive disease due to pathogenic variants leading to a depletion of triglycerides inside the adipose organ, and to a defective signaling of key elements involved in proper adipogenesis. Read More

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http://dx.doi.org/10.3389/fendo.2020.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034310PMC
February 2020

Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.

Sci Rep 2020 Feb 24;10(1):3259. Epub 2020 Feb 24.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.

Seipin deficiency causes severe congenital generalized lipodystrophy (CGL) and metabolic disease. However, how seipin regulates adipocyte development and function remains incompletely understood. We previously showed that seipin acts as a scaffold protein for AGPAT2, whose disruption also causes CGL. Read More

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http://dx.doi.org/10.1038/s41598-020-59982-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039881PMC
February 2020

Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report.

J Med Case Rep 2020 Feb 21;14(1):34. Epub 2020 Feb 21.

Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João EPE, Alameda Professor Hernâni Monteiro, 4202-451, Porto, Portugal.

Background: Lipodystrophies are a group of diseases which are characterized by abnormal adipose tissue deposition and are frequently associated with metabolic changes. Congenital generalized lipodystrophy is an autosomal recessive syndrome, with a prevalence < 1:10 million. Acromegaly is a rare disease, secondary to the chronic hypersecretion of growth hormone and insulin-like growth factor-1, with characteristic metabolic and somatic effects. Read More

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http://dx.doi.org/10.1186/s13256-020-2352-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033930PMC
February 2020

Imaging spectrum of abnormal subcutaneous and visceral fat distribution.

Insights Imaging 2020 Feb 13;11(1):24. Epub 2020 Feb 13.

Department of Radiology, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8606, Japan.

Adipose tissue plays multiple and complex roles not only in mechanical cushioning and energy storage but also as an important secretory organ that regulates energy balance and homeostasis multilaterally. Fat tissue is categorized into subcutaneous fat tissue (SCAT) or visceral fat tissue (VSA) depending on its distribution, with the two having different metabolic functions. Near-total lack of fat in congenital/acquired generalized lipodystrophy, cachexia, or any other severe malnutrition condition induces severe multi-organ dysfunction due to lack of production of leptin and other adipokines. Read More

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http://dx.doi.org/10.1186/s13244-019-0833-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7018866PMC
February 2020

Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy.

Diabetes Metab Syndr Obes 2020 13;13:107-115. Epub 2020 Jan 13.

Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.

Purpose: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the absence of functional adipocytes resulting in ectopic lipid storage, metabolic disorders and early cardiovascular disease. Two-dimensional speckle-tracking (2D-STE) allows the detection of early abnormalities in myocardial function. We aimed to evaluate myocardial deformation in a large sample of CGL patients using 2D-STE. Read More

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http://dx.doi.org/10.2147/DMSO.S233667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968814PMC
January 2020

Metabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy.

J Endocr Soc 2020 Jan 18;4(1):bvz022. Epub 2019 Nov 18.

Diabetes, Endocrinology, and Obesity Branch, Clinical Endocrinology Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

Context And Objective: Leptin treatment has dramatic clinical effects on glucose and lipid metabolism in leptin-deficient patients with lipodystrophy. Further elucidation of metabolic effects of exogenous leptin therapy will shed light on understanding leptin physiology in humans. Our objective was to utilize metabolomic profiling to examine the changes associated with administration of short-term metreleptin therapy in patients with lipodystrophy. Read More

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http://dx.doi.org/10.1210/jendso/bvz022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984783PMC
January 2020

Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2.

Biochim Biophys Acta Mol Cell Biol Lipids 2020 Apr 7;1865(4):158610. Epub 2020 Jan 7.

Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil. Electronic address:

CGL type 2 is a rare autosomal recessive syndrome characterized by an almost complete lack of body fat. CGL is caused by loss-of-function mutations in both alleles of the BSCL2 gene that codifies to seipin. Subjects often show hyperglycemia, decreased HDL-c, and hypoadiponectinemia. Read More

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http://dx.doi.org/10.1016/j.bbalip.2020.158610DOI Listing

GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.

Hum Mol Genet 2020 Feb;29(3):432-443

School of Biotechnology and Biomolecular Sciences, The University of New South Wales, Sydney, NSW 2052, Australia.

Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy and is caused by loss-of-function mutations in the BSCL2/seipin gene. Exactly how seipin may regulate adipogenesis remains unclear. A recent study in vitro suggested that seipin may function to inhibit the activity of glycerol-3-phosphate acyltransferases (GPATs), and increased GPAT activity may be responsible for the defective adipogenesis under seipin deficiency. Read More

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http://dx.doi.org/10.1093/hmg/ddz300DOI Listing
February 2020

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

Orphanet J Rare Dis 2019 12 19;14(1):294. Epub 2019 Dec 19.

Scientific Research Centre Suriname, Academic Hospital Paramaribo, Paramaribo, Suriname.

Background: Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, generalized lipodystrophy, insulin resistance, metabolic complications and skeletal features like stunted growth, mandibular and clavicular hypoplasia and acro-osteolysis of the distal phalanges. MADB is caused by reduced activity of the enzyme zinc metalloprotease ZMPSTE24 resulting from compound heterozygous or homozygous mutations in ZMPSTE24. Read More

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http://dx.doi.org/10.1186/s13023-019-1269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924056PMC
December 2019

Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.

Acta Radiol Open 2019 Dec 11;8(12):2058460119892407. Epub 2019 Dec 11.

Department of Orthopedic Surgery, Teikyo University School of Medicine, Tokyo, Japan.

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic or acquired generalized or partial body fat loss disorders. It is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. CGL is classified as type 1-4, depending on the gene involved, and bone lytic lesion is found frequently in type 1 especially in long bones, but reported to be rare in type 2. Read More

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http://dx.doi.org/10.1177/2058460119892407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906354PMC
December 2019

Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.

Eur J Pediatr 2020 Jan 16;179(1):39-50. Epub 2019 Dec 16.

Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, 3508, AB, Utrecht, The Netherlands.

Hypertrophic cardiomyopathy (HCM) in neonates is a rare and heterogeneous disorder which is characterized by hypertrophy of heart with histological and functional disruption of the myocardial structure/composition. The prognosis of HCM depends on the underlying diagnosis. In this review, we emphasize the importance to consider hyperinsulinism in the differential diagnosis of HCM, as hyperinsulinism is widely associated with cardiac hypertrophy (CH) which cannot be distinguished from HCM on echocardiographic examination. Read More

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http://dx.doi.org/10.1007/s00431-019-03521-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942572PMC
January 2020

A New Compound Heterozygous Mutation Of In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.

Diabetes Metab Syndr Obes 2019 5;12:2583-2587. Epub 2019 Dec 5.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.

Purpose: This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the .

Patients And Methods: In this study, we report clinical and molecular investigations of CGL disease in a family of 4 members (parents and two sons). We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease. Read More

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http://dx.doi.org/10.2147/DMSO.S207293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901035PMC
December 2019

Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn's disease.

Nat Commun 2019 12 10;10(1):5629. Epub 2019 Dec 10.

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

Leptin has been shown to modulate intestinal inflammation in mice. However, clinical evidence regarding its immune-stimulatory potential in human Crohn's disease remains sparse. We here describe a patient with the unique combination of acquired generalized lipodystrophy and Crohn's disease (AGLCD) featuring a lack of adipose tissue, leptin deficiency and intestinal inflammation. Read More

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http://dx.doi.org/10.1038/s41467-019-13559-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904732PMC
December 2019

Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.

Calcif Tissue Int 2020 Mar 5;106(3):325-330. Epub 2019 Dec 5.

Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science, No. 1 Shuaifuyuan, Wangfujing Street, Dongcheng District, Beijing, 100730, China.

Mutations in the gene LMNA cause a wide spectrum of diseases that are now referred to laminopathies, such as muscular dystrophies, cardiomyopathies, and progeroid syndromes. Atypical progeroid syndrome (APS) is a type of progeroid syndrome mainly associated with LMNA mutations. Abnormal skeletal features associated with APS, such as osteoporosis and acroosteolysis, are rarely reported, and recurrent fractures have never been documented. Read More

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http://dx.doi.org/10.1007/s00223-019-00639-5DOI Listing

Surgical fat removal exacerbates metabolic disorders but not atherogenesis in LDLR mice fed on high-fat diet.

Sci Rep 2019 11 28;9(1):17848. Epub 2019 Nov 28.

Department of Cardiology, Institute of Cardiovascular Diseases, First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, 116011, China.

Lipodystrophy is a severe adipose dysfunction that can be classified as congenital or acquired lipodystrophy, in term of the etiology. Previous knowledge about the metabolic disorders and cardiovascular consequences were mostly obtained from lipodystrophic mice with genetic defects. To completely rule out the genetic influence, we established a mouse model of acquired generalized lipodystrophy by surgical removal of multiple fat depots, including subcutaneous fat in the inguinal, visceral fat in the epididymis and brown fat in the scapula, in atherosclerosis-prone LDLR mice which were fed with a high-fat diet (HFD). Read More

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http://dx.doi.org/10.1038/s41598-019-54392-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883051PMC
November 2019

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Eur J Med Genet 2020 Apr 25;63(4):103819. Epub 2019 Nov 25.

Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey. Electronic address:

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3-9 years. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103819DOI Listing

Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.

Medicine (Baltimore) 2019 Nov;98(48):e18121

Department of Infectious Diseases, The Children's Hospital, Zhejiang University School Of Medicine, National Clinical Research Center For Child Health, Hangzhou, China.

Rationale: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare.

Patient Concerns And Diagnoses: One child with BSCL2 mutation and CGL accompanied by progressive myoclonic epilepsyDiagnosis: He was diagnosed with epilepsy, CGL, and severe malnutrition. Read More

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http://dx.doi.org/10.1097/MD.0000000000018121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890334PMC
November 2019
5 Reads
5.723 Impact Factor

Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up.

Indian Pediatr 2019 10;56(10):877-878

Division of Pediatric Endocrinology, Bai Jerbai Wadia Hospital for Children Mumbai, Maharashtra, India.

Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications. Here, we describe a 10-year-old girl with genetically proven Berardinelli Seip congenital generalized lipodystrophy type 2, diagnosed at 10 months of age. She developed comorbidities like proteinuria, hypertension, diabetes mellitus, and liver fibrosis. Read More

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October 2019
1.014 Impact Factor

Metreleptin Supplementation for Improving Lipid and Glycemic Profiles in Acquired Diabetes Lipodystrophy: A Case Report.

J Endocr Soc 2019 Nov 16;3(11):2179-2183. Epub 2019 Sep 16.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Kurume University School of Medicine, Fukuoka, Japan.

Most childhood cancer survivors who undergo hematopoietic stem cell transplantation subsequently develop impaired glucose tolerance and hypertriglyceridemia. These conditions are presumably associated with total-body irradiation-related acquired lipodystrophy and may lead to cardiovascular disease. Metreleptin (recombinant leptin) may help improve the lipoprotein profile, insulin sensitivity, and quality of life of patients with total-body irradiation-related lipodystrophy. Read More

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http://dx.doi.org/10.1210/js.2019-00251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830041PMC
November 2019

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.

Endocr J 2020 Feb 8;67(2):211-218. Epub 2019 Nov 8.

Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan.

We herein report a case of a 28-year-old man with generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement. He showed symptoms of generalized lipodystrophy around onset of puberty. His body mass index was 11. Read More

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http://dx.doi.org/10.1507/endocrj.EJ19-0226DOI Listing
February 2020

Interaction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes.

Biochem Biophys Res Commun 2020 Jan 7;521(3):732-738. Epub 2019 Nov 7.

Department of Biosciences and Bioengineering, Indian Institute of Technology Guwahati, Guwahati, 781 039, India. Electronic address:

The organization of caveolae ultrastructures in the plasma membrane and the functions they dictate are mediated by membrane-embedded caveolins (caveolin-1, 2, 3) and peripherally attached cavins (cavin-1, 2, 3, 4). Mutations in caveolin and cavin genes are associated with a variety of human diseases. Cavin-1/PTRF mutations are known to contribute to several human pathologies, including muscular dystrophy and congenital generalized lipodystrophy (CGL). Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.10.167DOI Listing
January 2020

The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years.

Clin Pediatr Endocrinol 2019 19;28(4):139-145. Epub 2019 Oct 19.

Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by loss of subcutaneous and visceral adipose tissues, and associated with dysregulation of glycolipid metabolism. In the present study, we reported the clinical manifestations and treatments of Japanese siblings with CGL caused by gene mutations with a clinical course of approximately 20 yr. Comprehensive management with metreleptin therapy, dietary control with additional medication, and psychosocial counseling in line with the patients' stages of growth and development were important in achieving long-term metabolic control of this condition. Read More

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http://dx.doi.org/10.1297/cpe.28.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801357PMC
October 2019

Leptin Restores Endothelial Function via Endothelial PPARγ-Nox1-Mediated Mechanisms in a Mouse Model of Congenital Generalized Lipodystrophy.

Hypertension 2019 12 28;74(6):1399-1408. Epub 2019 Oct 28.

From the Vascular Biology Center (T.B.-N., J.L.F., S.H., S.K., G.A., D.J.R.F., E.J.B.), Medical College of Georgia, Augusta University.

Leptin is the current treatment for metabolic disorders associated with acquired and congenital generalized lipodystrophy (CGL). Although excess leptin levels have been associated with vascular inflammation and cardiovascular disease in the context of obesity, the effects of chronic leptin treatment on vascular function remain unknown in CGL. Here, we hypothesized that leptin treatment will improve endothelial function via direct vascular mechanisms. Read More

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.119.13398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886673PMC
December 2019
1 Read

Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies.

GE Port J Gastroenterol 2019 Aug 30;26(5):362-369. Epub 2019 Jan 30.

Gastroenterology Unit, Pediatrics Division, Child and Adolescent Department, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Introduction: Lipodystrophies are a heterogeneous group of rare diseases (genetic or acquired) characterized by a partial or generalized deficit of adipose tissue, resulting in less energy storage capacity. They are associated with severe endocrine-metabolic complications with significant morbidity and mortality. In the pathogenesis of the acquired forms, immunological disorders may be involved. Read More

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http://dx.doi.org/10.1159/000495767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751459PMC
August 2019
3 Reads

Acquired Generalized Lipodystrophy: A New Cause of Anti-PD-1 Immune-Related Diabetes.

Diabetes Care 2019 Oct 21;42(10):2008-2010. Epub 2019 Aug 21.

French Network of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) and FIRENDO Network, Paris and Lyon, France

Objective: Anti-programmed cell death-1 (anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD-1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations, including acute-onset type 1 diabetes. Acquired generalized lipodystrophy (AGL) is a rare disease, believed to be immune mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. Read More

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http://dx.doi.org/10.2337/dc18-2535DOI Listing
October 2019
4 Reads

The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.

Mutat Res 2019 Jul - Sep;781:30-52. Epub 2019 Mar 23.

Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil. Electronic address:

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical subtypes of the disease are distinguished depending on which gene is mutated. Read More

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http://dx.doi.org/10.1016/j.mrrev.2019.03.005DOI Listing
March 2020
1 Read
3.680 Impact Factor

[Pathogenic genes and adipogenic differentiation transcription factor PPARγ associated with congenital lipodystrophic diabetes].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Aug;36(8):844-847

Department of Laboratory Medicine, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China.

Congenital lipodystrophic diabetes (CLD) is a rare genetic disease characterized by generalized or topical subcutaneous fat loss combined with various metabolic disorders such as insulin resistance, dyslipidemia, and impaired glucose tolerance. Recent studies have discovered genes underlying the disease. Mutations of such genes are associated with adipogenic anomaly, especially regulational function of peroxisome proliferators-activated receptor γ (γPPAR) for lipid. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.08.023DOI Listing
August 2019
3 Reads

Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study.

J Clin Endocrinol Metab 2019 11;104(11):5120-5135

National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

Context: Limited natural history data are available in patients with non-HIV-related lipodystrophy syndromes who never received disease-specific therapies, making interpretation of benefits of therapies in lipodystrophy syndromes challenging.

Objective: We assessed the natural history of non-HIV-related generalized lipodystrophy (GL) and partial lipodystrophy (PL) in patients who have never received leptin or other lipodystrophy-specific therapies.

Design/setting/patients: We conducted an international chart review of 230 patients with confirmed GL or PL at five treatment centers who never received leptin or other lipodystrophy-specific therapies. Read More

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http://dx.doi.org/10.1210/jc.2018-02730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760298PMC
November 2019
7 Reads

Oil Red-O Positive lipid blobs on peripheral blood film examination in a muscular infant with the diagnosis of Berardinelli-Seip syndrome.

Oxf Med Case Reports 2019 Jul 12;2019(7):omz062. Epub 2019 Jul 12.

Pediatric Hematology-Oncology Unit, Post Graduate Institute of Medical Education and Research, Chandigarh.

Lipodystrophy syndromes can be acquired or hereditary in nature and are characterized by abnormal fat distribution including the inability of the body to develop and sustain healthy adipose tissue. They may be generalized or partial in nature. The congenital generalized form is termed as Berardinelli-Seip syndrome and may occur due to mutations in the or genes. Read More

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http://dx.doi.org/10.1093/omcr/omz062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624998PMC
July 2019
4 Reads

Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy.

Diabetol Metab Syndr 2019 1;11:53. Epub 2019 Jul 1.

Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes 1608, Fortaleza, Ceará 60416-200 Brazil.

Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the absence of subcutaneous adipose tissue, severe insulin resistance, diabetes mellitus, and cardiovascular complications, including cardiac autonomic neuropathy (CAN), left ventricular hypertrophy (LVH), and atherosclerosis. The present study aimed to access the association between CAN parameters and cardiovascular abnormalities in CGL patients.

Methods: A cross-sectional study was conducted with 10 CGL patients and 20 healthy controls matched for age, sex, BMI, and pubertal stage. Read More

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http://dx.doi.org/10.1186/s13098-019-0444-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604128PMC
July 2019
9 Reads

Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes.

Orphanet J Rare Dis 2019 07 12;14(1):177. Epub 2019 Jul 12.

Sorbonne Université, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.

Background: Although metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients' adherence and satisfaction with treatment have never been evaluated. The 20 patients with lipodystrophic syndromes participating in the French compassionate program of metreleptin therapy filled in a self-questionnaire including an Adherence Evaluation Test, the Treatment Satisfaction Questionnaire for Medication (TSQM®-vII), and items about physical appearance.

Results: 15 patients were women, median age was 32. Read More

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http://dx.doi.org/10.1186/s13023-019-1141-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626409PMC
July 2019
10 Reads

A new laminopathy caused by an Arg133/Leu mutation in and the effects thereof on adipocyte differentiation and the transcriptome.

Adipocyte 2019 12;8(1):280-291

a Department of Endocrinology , The Affiliated Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University , Hangzhou , Zhejiang , China.

We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (). We analysed the nuclear morphology and laminar distribution in 3T3-L1 pre-adipocytes overexpressing human wild-type lamin A/C ( WT) or lamin A/C with the R133L mutation ( R133L). We found the nuclear size was varied, nuclear membrane invagination or blebbing, and an irregular A-type lamin meshwork in cells overexpressing R133L. Read More

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http://dx.doi.org/10.1080/21623945.2019.1640007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768263PMC
December 2019
2 Reads

Congenital lipodystrophy induces severe osteosclerosis.

PLoS Genet 2019 06 24;15(6):e1008244. Epub 2019 Jun 24.

Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, United States of America.

Berardinelli-Seip congenital generalized lipodystrophy is associated with increased bone mass suggesting that fat tissue regulates the skeleton. Because there is little mechanistic information regarding this issue, we generated "fat-free" (FF) mice completely lacking visible visceral, subcutaneous and brown fat. Due to robust osteoblastic activity, trabecular and cortical bone volume is markedly enhanced in these animals. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611650PMC
June 2019
28 Reads

An overview of lipodystrophy and the role of the complement system.

Authors:
F Corvillo B Akinci

Mol Immunol 2019 08 6;112:223-232. Epub 2019 Jun 6.

Division of Endocrinology, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey; Brehm Center for Diabetes Research, Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan, 1000 Wall Street, Room 5313, Ann Arbor, MI, 48105, USA.

The complement system is a major component of innate immunity playing essential roles in the destruction of pathogens, the clearance of apoptotic cells and immune complexes, the enhancement of phagocytosis, inflammation, and the modulation of adaptive immune responses. During the last decades, numerous studies have shown that the complement system has key functions in the biology of certain tissues. For example, complement contributes to normal brain and embryonic development and to the homeostasis of lipid metabolism. Read More

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http://dx.doi.org/10.1016/j.molimm.2019.05.011DOI Listing
August 2019
32 Reads

Clinical Trials Required to Assess Potential Benefits and Side Effects of Treatment of Patients With Anorexia Nervosa With Recombinant Human Leptin.

Front Psychol 2019 17;10:769. Epub 2019 May 17.

Department of Child and Adolescent Psychiatry, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

The core phenotype of anorexia nervosa (AN) comprises the age and stage dependent intertwining of both its primary and secondary (i.e., starvation induced) somatic and mental symptoms. Read More

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https://www.frontiersin.org/article/10.3389/fpsyg.2019.00769
Publisher Site
http://dx.doi.org/10.3389/fpsyg.2019.00769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533856PMC
May 2019
22 Reads

Acquired generalized lipodystrophy under immune checkpoint inhibition.

Br J Dermatol 2020 Feb 9;182(2):477-480. Epub 2019 Aug 9.

Department of Dermatology, AP-HP Saint-Louis Hospital, F-75010, Paris, France.

Immune checkpoint inhibitors are now the standard of care in the treatment of several types of cancer. Cutaneous immune-related adverse events (irAEs) are usually of low grade and reversible, while endocrine irAEs are generally irreversible and managed with hormone replacement therapy. We report a 47-year-old patient, treated with the anti-programmed cell death (PD)1 antibody pembrolizumab for a metastatic melanoma, who developed severe lipodystrophy after 10 months of treatment, characterized by the loss of subcutaneous fat tissue, central obesity and insulin resistance with a decreased leptin level. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/bjd.18124
Publisher Site
http://dx.doi.org/10.1111/bjd.18124DOI Listing
February 2020
31 Reads

Effects of metreleptin on proteinuria in patients with lipodystrophy.

J Clin Endocrinol Metab 2019 Apr 16. Epub 2019 Apr 16.

Diabetes, Endocrinology, and Obesity Branch; National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institutes of Health (NIH); Bethesda, MD.

Context: Patients with lipodystrophy have high prevalence of proteinuria.

Objective: To assess kidney disease in patients with generalized (GLD) versus partial lipodystrophy (PLD), and effects metreleptin on proteinuria in patients with lipodystrophy.

Design/setting/patients/intervention: Prospective, open-label studies of metreleptin treatment in patients with GLD and PLD at the National Institutes of Health, Bethesda, MD. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
Publisher Site
http://dx.doi.org/10.1210/jc.2019-00200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688455PMC
April 2019
30 Reads

Diagnosis of acquired generalized lipodystrophy in a single patient with T-cell lymphoma and no exposure to Metreleptin.

Clin Diabetes Endocrinol 2019 14;5. Epub 2019 Mar 14.

1Division of Metabolism Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan and Brehm Center for Diabetes, 1000 Wall Street, Room 5313, Ann Arbor, MI 48105 USA.

Background: Metreleptin, a recombinant methionyl -human -leptin, was approved to treat patients with generalized lipodystrophy (GL) in February 2014. However, leptin therapy has been associated with the development of lymphoma. We present a unique case of a patient with prior history of T cell lymphoma in remission, who was diagnosed with Acquired Generalized Lipodystrophy (AGL) during the following year after a clinical remission of her lymphoma without receiving leptin therapy. Read More

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http://dx.doi.org/10.1186/s40842-019-0076-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419468PMC
March 2019
31 Reads