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J Clin Med 2021 Apr 8;10(8). Epub 2021 Apr 8.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, 89075 Ulm, Germany.

Survivors of childhood cancer are at high risk of developing metabolic diseases in adulthood. Recently, several patients developing partial lipodystrophy following hematopoietic stem cell transplantation (HSCT) have been described. In this review, we summarize the cases described so far and discuss potential underlying mechanisms of the disease. Read More

Biochim Biophys Acta Mol Basis Dis 2021 Jun 11;1867(6):166120. Epub 2021 Mar 11.

Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Natal, RN, Brazil.

Lipodystrophy syndromes are a group of rare diseases related to the pathological impairment of adipose tissue and metabolic comorbidities, including dyslipidemia, diabetes, insulin resistance, hypoleptinemia, and hypoadiponectinemia. They can be categorized as partial or generalized according to the degree of fat loss, and inherited or acquired disorders, if they are associated with genetic mutations or are related to autoimmunity, respectively. Some types of lipodystrophies have been associated with changes in both redox and endoplasmic reticulum (ER) homeostasis as well as muscle dysfunction (MD). Read More

Int J Mol Sci 2020 Nov 20;21(22). Epub 2020 Nov 20.

German Diabetes-Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.

Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack of differentiation, loss of function or premature apoptosis. As a consequence, lipids can only be stored ectopically in non-adipocytes with the major health consequences as fatty liver and insulin resistance. Read More

Eur J Endocrinol 2021 Jan;184(1):155-168

Sorbonne Université, Inserm UMRS_938, Centre de Recherche Saint Antoine, Paris, France.

Objective: The term Multiple Symmetric Lipomatosis (MSL) describes a heterogeneous group of rare monogenic disorders and multifactorial conditions, characterized by upper-body adipose masses. Biallelic variants in LIPE encoding hormone-sensitive lipase (HSL), a key lipolytic enzyme, were implicated in three families worldwide. We aimed to further delineate LIPE-related clinical features and pathophysiological determinants. Read More

Internist (Berl) 2020 Oct;61(10):1063-1075

Zentrum für Seltene Endokrine Erkrankungen (ZSEE), Sektion Pädiatrische Endokrinologie und Diabetologie, Universitätsklinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Eythstr. 24, 89075, Ulm, Deutschland.

Lipodystrophy (LD) syndromes are a group of rare and heterogeneous diseases characterized by a congenital deficiency or acquired loss of adipose tissue. Due to the resulting disorder of metabolism, sometimes severe sequelae can develop, such as hypertriglyceridemia, marked insulin resistance and early manifestation of type 2 diabetes, recurrent pancreatitis, fatty liver disease and liver fibrosis. Lipodystrophies are clinically recognizable due to the complete lack of subcutaneous adipose tissue or a conspicuous pattern of the distribution of body fat. Read More

Turk J Gastroenterol 2020 08;31(8):588-595

Division of Endocrinology, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Background/aims: Lipodystrophy is a rare metabolic disorder characterized by near total or partial lack of subcutaneous adipose tissue and associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy imaging (MRS) to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between the liver fat accumulation and clinical presentations of lipodystrophy.

Materials And Methods: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for quantification of hepatic steatosis. Read More

J Dermatol 2020 Dec 5;47(12):1439-1444. Epub 2020 Sep 5.

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.

Barraquer-Simons syndrome (BSS), a form of acquired partial lipodystrophy, is a rare condition characterized by gradual loss of adipose tissue from the upper body, keeping intact the white adipose tissue of the lower extremities. The etiology of BSS is not well understood, and clinical follow-up studies have not been assessed in these patients. Moreover, no histological studies have been conducted during the active phase of the disease, and complement system activation products have not been sought in the affected areas. Read More

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

BMJ Case Rep 2020 May 12;13(5). Epub 2020 May 12.

Division of Surgery & Interventional Science, University College London, London, UK.

We present a 48-year-old female patient who presented with features consistent with acquired partial lipodystrophy (APL) also known as 'Barraquer-Simons syndrome'. It is a rare disease characterised by a gradual and progressive onset of lipoatrophy limited to the face, neck, upper limbs, thorax and abdomen and sparing the lower extremities. The resultant physical appearance can have significant psychosocial sequelae, further compounded by misdiagnosis and delay in recognition and management. Read More

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

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

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

Ann Endocrinol (Paris) 2020 Feb 16;81(1):51-60. Epub 2019 Dec 16.

Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Service d'Endocrinologie, Diabétologie et Endocrinologie de la reproduction, Centre national de Référence des Pathologies Rares de l'Insulino - Sécrétion et de l'Insulino-Sensibilité (PRISIS), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France. Electronic address:

Lipodystrophic syndromes are acquired or genetic rare diseases, characterised by a generalised or partial lack of adipose tissue leading to metabolic alterations linked to strong insulin resistance. They encompass a variety of clinical entities due to primary defects in adipose differentiation, in the structure and/or regulation of the adipocyte lipid droplet, or due to immune-inflammatory aggressions, chromatin deregulations and/or mitochondrial dysfunctions affecting adipose tissue. Diagnosis is based on clinical examination, pathological context and comorbidities, and on results of metabolic investigations and genetic analyses, which together determine management and genetic counselling. Read More

Orphanet J Rare Dis 2020 01 10;15(1). Epub 2020 Jan 10.

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Paseo de la Castellana, 261, 28046, Madrid, Spain.

Background: C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (BSS), an acquired form of partial lipodystrophy. Moreover, BSS is frequently associated with autoimmune diseases. However, the relationship between complement system dysregulation and BSS remains to be fully elucidated. Read More

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

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

Retin Cases Brief Rep 2019 Aug 21. Epub 2019 Aug 21.

Service d'ophtalmologie, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.

Purpose: To report a case of lifelong progressive retinal atrophic lesions in a patient with partial acquired lipodystrophy, that is, Barraquer-Simons syndrome.

Methods: Case report.

Results: A 67-year-old female patient with Barraquer-Simons syndrome was referred for progressive visual loss. Read More

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

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

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

Acta Endocrinol (Buchar) 2019 Jan-Mar;-5(1):129-130

Dokuz Eylul University - Division of Endocrinology, Izmir, Turkey.

About 250 patients with acquired partial lipodystrophy (Barraquer-Simons) syndrome have been reported so far. It is characterized by the loss of adipose tissue from the face and upper extremities, and accumulated fat in the rest of the body. The disease usually starts in females during childhood or adolescence, and usually after a febrile illness. Read More

J Pediatr Endocrinol Metab 2019 May;32(5):537-541

Division of Endocrinology and Metabolism, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Hematopoietic stem cell transplantation (HSCT) has been newly identified as an etiology underlying acquired lipodystrophy (ALD). We report about two children with leukemia who underwent HSCT and later manifested aberrant fat distributions consistent with acquired partial lipodystrophy (APL). Both patients manifested graft-versus-host disease (GVHD), suggesting that GVHD may trigger lipodystrophy. Read More

Metabolism 2019 07 6;96:66-82. Epub 2019 May 6.

Department of Internal Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; Section of Endocrinology, Boston VA Healthcare System, Harvard Medical School, Boston, MA, USA.

Lipodystrophy is a group of clinically heterogeneous, inherited or acquired, disorders characterized by complete or partial absence of subcutaneous adipose tissue that may occur simultaneously with the pathological, ectopic, accumulation of fat in other regions of the body, including the liver. Fatty liver adds significantly to hepatic and extra-hepatic morbidity in patients with lipodystrophy. Lipodystrophy is strongly associated with severe insulin resistance and related comorbidities, such as hyperglycemia, hyperlipidemia and nonalcoholic fatty liver disease (NAFLD), but other hepatic diseases may co-exist in some types of lipodystrophy, including autoimmune hepatitis in acquired lipodystrophies, or viral hepatitis in human immunodeficiency virus (HIV)-associated lipodystrophy. Read More

Front Immunol 2019 24;10:886. Epub 2019 Apr 24.

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.

Nephritic factors comprise a heterogeneous group of autoantibodies against neoepitopes generated in the C3 and C5 convertases of the complement system, causing its dysregulation. Classification of these autoantibodies can be clustered according to their stabilization of different convertases either from the classical or alternative pathway. The first nephritic factor described with the capacity to stabilize C3 convertase of the alternative pathway was C3 nephritic factor (C3NeF). Read More

J Cosmet Dermatol 2019 Apr 15. Epub 2019 Apr 15.

Department of Dermatology, Boston University School of Medicine, Boston, Massachusetts.

Parry-Romberg syndrome is a rare acquired neurocutaneous disorder typically characterized by hemifacial atrophy. Few cases of bilateral facial involvement have been reported. We report a case of a 60-year-old female with a 20-year history of progressive bilateral facial atrophy. Read More

J Cosmet Dermatol 2019 Jan 3. Epub 2019 Jan 3.

Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Background: Barraquer-Simons syndrome (BSS) or acquired partial lipodystrophy is a disorder of loss of subcutaneous fat from the upper part of the body. The resulting cosmetic disfigurement causes significant psychological distress in the affected individuals. Fillers, autologous fat transplant or cosmetic surgeries can be used to correct the volume deficit. Read More

Pathology 2019 Feb 27;51(2):202-212. Epub 2018 Dec 27.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address:

Lipodystrophies are rare, heterogeneous, genetic or acquired, disorders characterised by varying degrees of body fat loss and associated metabolic complications, including insulin resistance, dyslipidaemias, hepatic steatosis and predisposition to atherosclerotic cardiovascular disease (ASCVD). The four main types of lipodystrophy, excluding antiretroviral therapy-induced lipodystrophy in HIV-infected patients, are congenital generalised lipodystrophy (CGL), familial partial lipodystrophy (FPLD), acquired generalised lipodystrophy (AGL) and acquired partial lipodystrophy (APL). This paper reviews the literature related to the prevalence of dyslipidaemias and ASCVD in patients with lipodystrophies. Read More

J Med Case Rep 2018 Dec 14;12(1):368. Epub 2018 Dec 14.

Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.

Introduction: Acquired partial lipoatrophy has been reported after bone marrow transplantation during childhood; however, no adult cases have previously been reported. We herein report two adult cases of acquired partial lipoatrophy after transplantation.

Case Presentation: A 28-year-old Japanese woman developed diabetic ketoacidosis and received insulin therapy after bone marrow transplantation. Read More

Methods Mol Biol 2019 ;1901:177-182

Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden.

Autoantibodies to the C3 convertase of the alternative pathway of complement, called C3 nephritic factors (C3NeF), cause persistently low C3 in the circulation and production of C3 degradation fragments due to prolonged stabilization of the C3 convertase. C3NeF are associated with glomerulopathy, acquired partial lipodystrophy, and less frequently with increased susceptibility to meningococcal infection. Analysis of C3NeF is an important part of the diagnostic workup of C3 glomerulopathy, but their identification is difficult presumably due to considerable heterogeneity. Read More

J Eur Acad Dermatol Venereol 2019 Nov 1;33(11):2188-2191. Epub 2019 Jan 1.

Faculté de Médecine, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg et Clinique Dermatologique, Strasbourg, France.

Background: Acquired partial lipodystrophy (APL) is characterized by the gradual symmetrical loss of subcutaneous fat starting from the face, spreading towards the upper part of the body and sparing the lower extremities.

Objective: We report a 33-year-old woman with facial lipodystrophy, loss of buccal fat pads and breast fat tissue. The subcutaneous fat was preserved in other anatomic regions, and we noted some excess of fat accumulation in the lower abdomen and thighs. Read More