The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
Identifieur interne : 002493 ( Pmc/Curation ); précédent : 002492; suivant : 002494The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
Auteurs : Rebecca J. Brown ; David Araujo-Vilar ; Pik To Cheung ; David Dunger ; Abhimanyu Garg ; Michelle Jack ; Lucy Mungai ; Elif A. Oral ; Nivedita Patni ; Kristina I. Rother ; Julia Von Schnurbein ; Ekaterina Sorkina ; Takara Stanley ; Corinne Vigouroux ; Martin Wabitsch ; Rachel Williams ; Tohru YorifujiSource :
- The Journal of Clinical Endocrinology and Metabolism [ 0021-972X ] ; 2016.
Abstract
Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs.
Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts. Funding was via an unrestricted educational grant from Astra Zeneca to the Pediatric Endocrine Society. Meetings were not open to the general public.
A literature review was conducted by the committee. Recommendations of the committee were graded using the system of the American Heart Association. Expert opinion was used when published data were unavailable or scarce.
The guideline was drafted by committee members and reviewed, revised, and approved by the entire committee during group meetings. Contributing societies reviewed the document and provided approval.
Lipodystrophy syndromes are heterogeneous and are diagnosed by clinical phenotype, supplemented by genetic testing in certain forms. Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually. Diet is essential for the management of metabolic complications of lipodystrophy. Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients with partial lipodystrophy. Other treatments not specific for lipodystrophy may be helpful as well (eg, metformin for diabetes, and statins or fibrates for hyperlipidemia). Oral estrogens are contraindicated.
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DOI: 10.1210/jc.2016-2466
PubMed: 27710244
PubMed Central: 5155679
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Brown</name></author><author><name sortKey="Araujo Vilar, David" sort="Araujo Vilar, David" uniqKey="Araujo Vilar D" first="David" last="Araujo-Vilar">David Araujo-Vilar</name></author><author><name sortKey="Cheung, Pik To" sort="Cheung, Pik To" uniqKey="Cheung P" first="Pik To" last="Cheung">Pik To Cheung</name></author><author><name sortKey="Dunger, David" sort="Dunger, David" uniqKey="Dunger D" first="David" last="Dunger">David Dunger</name></author><author><name sortKey="Garg, Abhimanyu" sort="Garg, Abhimanyu" uniqKey="Garg A" first="Abhimanyu" last="Garg">Abhimanyu Garg</name></author><author><name sortKey="Jack, Michelle" sort="Jack, Michelle" uniqKey="Jack M" first="Michelle" last="Jack">Michelle Jack</name></author><author><name sortKey="Mungai, Lucy" sort="Mungai, Lucy" uniqKey="Mungai L" first="Lucy" last="Mungai">Lucy Mungai</name></author><author><name sortKey="Oral, Elif A" sort="Oral, Elif A" uniqKey="Oral E" first="Elif A." last="Oral">Elif A. Oral</name></author><author><name sortKey="Patni, Nivedita" sort="Patni, Nivedita" uniqKey="Patni N" first="Nivedita" last="Patni">Nivedita Patni</name></author><author><name sortKey="Rother, Kristina I" sort="Rother, Kristina I" uniqKey="Rother K" first="Kristina I." last="Rother">Kristina I. Rother</name></author><author><name sortKey="Von Schnurbein, Julia" sort="Von Schnurbein, Julia" uniqKey="Von Schnurbein J" first="Julia" last="Von Schnurbein">Julia Von Schnurbein</name></author><author><name sortKey="Sorkina, Ekaterina" sort="Sorkina, Ekaterina" uniqKey="Sorkina E" first="Ekaterina" last="Sorkina">Ekaterina Sorkina</name></author><author><name sortKey="Stanley, Takara" sort="Stanley, Takara" uniqKey="Stanley T" first="Takara" last="Stanley">Takara Stanley</name></author><author><name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name></author><author><name sortKey="Wabitsch, Martin" sort="Wabitsch, Martin" uniqKey="Wabitsch M" first="Martin" last="Wabitsch">Martin Wabitsch</name></author><author><name sortKey="Williams, Rachel" sort="Williams, Rachel" uniqKey="Williams R" first="Rachel" last="Williams">Rachel Williams</name></author><author><name sortKey="Yorifuji, Tohru" sort="Yorifuji, Tohru" uniqKey="Yorifuji T" first="Tohru" last="Yorifuji">Tohru Yorifuji</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27710244</idno><idno type="pmc">5155679</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155679</idno><idno type="RBID">PMC:5155679</idno><idno type="doi">10.1210/jc.2016-2466</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002643</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002643</idno><idno type="wicri:Area/Pmc/Curation">002493</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002493</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline</title><author><name sortKey="Brown, Rebecca J" sort="Brown, Rebecca J" uniqKey="Brown R" first="Rebecca J." last="Brown">Rebecca J. Brown</name></author><author><name sortKey="Araujo Vilar, David" sort="Araujo Vilar, David" uniqKey="Araujo Vilar D" first="David" last="Araujo-Vilar">David Araujo-Vilar</name></author><author><name sortKey="Cheung, Pik To" sort="Cheung, Pik To" uniqKey="Cheung P" first="Pik To" last="Cheung">Pik To Cheung</name></author><author><name sortKey="Dunger, David" sort="Dunger, David" uniqKey="Dunger D" first="David" last="Dunger">David Dunger</name></author><author><name sortKey="Garg, Abhimanyu" sort="Garg, Abhimanyu" uniqKey="Garg A" first="Abhimanyu" last="Garg">Abhimanyu Garg</name></author><author><name sortKey="Jack, Michelle" sort="Jack, Michelle" uniqKey="Jack M" first="Michelle" last="Jack">Michelle Jack</name></author><author><name sortKey="Mungai, Lucy" sort="Mungai, Lucy" uniqKey="Mungai L" first="Lucy" last="Mungai">Lucy Mungai</name></author><author><name sortKey="Oral, Elif A" sort="Oral, Elif A" uniqKey="Oral E" first="Elif A." last="Oral">Elif A. Oral</name></author><author><name sortKey="Patni, Nivedita" sort="Patni, Nivedita" uniqKey="Patni N" first="Nivedita" last="Patni">Nivedita Patni</name></author><author><name sortKey="Rother, Kristina I" sort="Rother, Kristina I" uniqKey="Rother K" first="Kristina I." last="Rother">Kristina I. Rother</name></author><author><name sortKey="Von Schnurbein, Julia" sort="Von Schnurbein, Julia" uniqKey="Von Schnurbein J" first="Julia" last="Von Schnurbein">Julia Von Schnurbein</name></author><author><name sortKey="Sorkina, Ekaterina" sort="Sorkina, Ekaterina" uniqKey="Sorkina E" first="Ekaterina" last="Sorkina">Ekaterina Sorkina</name></author><author><name sortKey="Stanley, Takara" sort="Stanley, Takara" uniqKey="Stanley T" first="Takara" last="Stanley">Takara Stanley</name></author><author><name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name></author><author><name sortKey="Wabitsch, Martin" sort="Wabitsch, Martin" uniqKey="Wabitsch M" first="Martin" last="Wabitsch">Martin Wabitsch</name></author><author><name sortKey="Williams, Rachel" sort="Williams, Rachel" uniqKey="Williams R" first="Rachel" last="Williams">Rachel Williams</name></author><author><name sortKey="Yorifuji, Tohru" sort="Yorifuji, Tohru" uniqKey="Yorifuji T" first="Tohru" last="Yorifuji">Tohru Yorifuji</name></author></analytic><series><title level="j">The Journal of Clinical Endocrinology and Metabolism</title><idno type="ISSN">0021-972X</idno><idno type="eISSN">1945-7197</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs.</p></sec><sec><title>Participants:</title><p>Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts. Funding was via an unrestricted educational grant from Astra Zeneca to the Pediatric Endocrine Society. Meetings were not open to the general public.</p></sec><sec><title>Evidence:</title><p>A literature review was conducted by the committee. Recommendations of the committee were graded using the system of the American Heart Association. Expert opinion was used when published data were unavailable or scarce.</p></sec><sec><title>Consensus Process:</title><p>The guideline was drafted by committee members and reviewed, revised, and approved by the entire committee during group meetings. Contributing societies reviewed the document and provided approval.</p></sec><sec><title>Conclusions:</title><p>Lipodystrophy syndromes are heterogeneous and are diagnosed by clinical phenotype, supplemented by genetic testing in certain forms. Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually. Diet is essential for the management of metabolic complications of lipodystrophy. Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients with partial lipodystrophy. Other treatments not specific for lipodystrophy may be helpful as well (eg, metformin for diabetes, and statins or fibrates for hyperlipidemia). 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<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Endocrinol Metab</journal-id><journal-id journal-id-type="iso-abbrev">J. Clin. Endocrinol. Metab</journal-id><journal-id journal-id-type="hwp">jcem</journal-id><journal-id journal-id-type="publisher-id">jceme</journal-id><journal-id journal-id-type="pmc">jcem</journal-id><journal-title-group><journal-title>The Journal of Clinical Endocrinology and Metabolism</journal-title></journal-title-group><issn pub-type="ppub">0021-972X</issn><issn pub-type="epub">1945-7197</issn><publisher><publisher-name>Endocrine Society</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27710244</article-id><article-id pub-id-type="pmc">5155679</article-id><article-id pub-id-type="publisher-id">16-2466</article-id><article-id pub-id-type="doi">10.1210/jc.2016-2466</article-id><article-categories><subj-group subj-group-type="heading"><subject>Special Features</subject></subj-group><series-title>Consensus Statement</series-title></article-categories><title-group><article-title>The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Brown</surname><given-names>Rebecca J.</given-names></name><role>Committee Chair</role></contrib><contrib contrib-type="author"><name><surname>Araujo-Vilar</surname><given-names>David</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cheung</surname><given-names>Pik To</given-names></name></contrib><contrib contrib-type="author"><name><surname>Dunger</surname><given-names>David</given-names></name></contrib><contrib contrib-type="author"><name><surname>Garg</surname><given-names>Abhimanyu</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jack</surname><given-names>Michelle</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mungai</surname><given-names>Lucy</given-names></name></contrib><contrib contrib-type="author"><name><surname>Oral</surname><given-names>Elif A.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Patni</surname><given-names>Nivedita</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rother</surname><given-names>Kristina I.</given-names></name></contrib><contrib contrib-type="author"><name><surname>von Schnurbein</surname><given-names>Julia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sorkina</surname><given-names>Ekaterina</given-names></name></contrib><contrib contrib-type="author"><name><surname>Stanley</surname><given-names>Takara</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vigouroux</surname><given-names>Corinne</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wabitsch</surname><given-names>Martin</given-names></name></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Rachel</given-names></name></contrib><contrib contrib-type="author"><name><surname>Yorifuji</surname><given-names>Tohru</given-names></name></contrib><aff>National Institute of Diabetes and Digestive and Kidney Diseases (R.J.B., K.I.R.), National Institutes of Health, Bethesda, Maryland 20892; Department of Medicine (D.A.-V.), University of Santiago de Compostela, 15782 Santiago de Compostela, Spain; Department of Paediatrics and Adolescent Medicine (P.T.C.), The University of Hong Kong, Hong Kong Special Administrative Region, China; Department of Paediatrics (D.D.), University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Metabolic Research Laboratories Wellcome Trust (D.D.), Medical Research Council (MRC) Institute of Metabolic Science, National Institute for Health Research Cambridge Comprehensive Biomedical Research Centre, MRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Division of Nutrition and Metabolic Diseases (A.G.), Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas 75390; Royal North Shore Hospital (M.J.), Northern Clinical School, University of Sydney, St Leonards, NSW 2126, Australia; Department of Paediatrics and Child Health (L.M.), University of Nairobi, 00100 Nairobi, Kenya; Brehm Center for Diabetes and Division of Metabolism, Endocrinology, and Diabetes (E.A.O.), Department of Internal Medicine, University of Michigan Medical School and Health Systems, Ann Arbor, Michigan 48109; Division of Pediatric Endocrinology (N.P.), Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390; Division of Pediatric Endocrinology and Diabetes (J.v.S., M.W.), Department of Pediatrics and Adolescent Medicine, University of Ulm, 89075 Ulm, Germany; Clamp Technologies Laboratory (E.S.), Endocrinology Research Center, and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov, Moscow State University, Moscow 119991, Russia; Pediatric Endocrine Unit and Program in Nutritional Metabolism (T.S.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02115; Sorbonne Universities (C.V.), l'université Pierre et Marie Curie, University of Paris VI, Inserm Unité Mixte de Recherche en Santé 938, St-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Assistance Publique-Hôpitaux de Paris, St-Antoine Hospital, Molecular Biology and Genetics Department, 75012 Paris, France; Department of Paediatric Endocrinology (R.W.), Cambridge University Hospitals NHS Trust, Cambridge CB2 0QQ, United Kingdom; and Division of Pediatric Endocrinology and Metabolism (T.Y.), Children's Medical Center, Osaka City General Hospital, Osaka City 534–0021, Japan</aff></contrib-group><author-notes><corresp>Address all correspondence and requests for reprints to: Rebecca J. Brown, MD, MHSc, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10-CRC, Room 6-5942, 10 Center Drive, Bethesda, MD 20892. E-mail: <email>brownrebecca@niddk.nih.gov</email>.</corresp></author-notes><pub-date pub-type="ppub"><month>12</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>6</day><month>10</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>6</day><month>10</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>101</volume><issue>12</issue><fpage>4500</fpage><lpage>4511</lpage><history><date date-type="received"><day>23</day><month>6</month><year>2016</year></date><date date-type="accepted"><day>14</day><month>9</month><year>2016</year></date></history><permissions><license license-type="open-access" xlink:href="https://creativecommons.org/licenses/by-nc/4.0/"><license-p>This article is published under the terms of the Creative Commons Attribution-Non Commercial License (CC-BY-NC; <ext-link ext-link-type="uri" xlink:href="https://creativecommons.org/licenses/by-nc/4.0/">https://creativecommons.org/licenses/by-nc/4.0/</ext-link>).</license-p></license></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="zeg01216004500.pdf"></self-uri><abstract><sec><title>Objective:</title><p>Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs.</p></sec><sec><title>Participants:</title><p>Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts. Funding was via an unrestricted educational grant from Astra Zeneca to the Pediatric Endocrine Society. Meetings were not open to the general public.</p></sec><sec><title>Evidence:</title><p>A literature review was conducted by the committee. Recommendations of the committee were graded using the system of the American Heart Association. Expert opinion was used when published data were unavailable or scarce.</p></sec><sec><title>Consensus Process:</title><p>The guideline was drafted by committee members and reviewed, revised, and approved by the entire committee during group meetings. Contributing societies reviewed the document and provided approval.</p></sec><sec><title>Conclusions:</title><p>Lipodystrophy syndromes are heterogeneous and are diagnosed by clinical phenotype, supplemented by genetic testing in certain forms. Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually. Diet is essential for the management of metabolic complications of lipodystrophy. Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients with partial lipodystrophy. Other treatments not specific for lipodystrophy may be helpful as well (eg, metformin for diabetes, and statins or fibrates for hyperlipidemia). Oral estrogens are contraindicated.</p></sec></abstract><abstract abstract-type="precis"><p>Multiple worldwide endocrine societies developed practice guidelines for diagnosis and management of lipodystrophy syndromes based on current evidence.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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