Guidance for the diagnosis and treatment of hypolipidemia disorders
•A classification and genetic basis for hypolipidemia disorders is provided.•We suggest guidance for the diagnosis and treatment of these disorders.•We discuss challenges encountered by patients with hypolipidemia disorders.•Topics for future research are highlighted. The Abetalipoproteinemia and Re...
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| Veröffentlicht in: | Journal of clinical lipidology 2022-11, Vol.16 (6), p.797-812 |
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| creator | Bredefeld, Cindy Hussain, M. Mahmood Averna, Maurizio Black, Dennis D. Brin, Mitchell F. Burnett, John R. Charrière, Sybil Cuerq, Charlotte Davidson, Nicholas O. Deckelbaum, Richard J. Goldberg, Ira J. Granot, Esther Hegele, Robert A. Ishibashi, Shun Karmally, Wahida Levy, Emile Moulin, Philippe Okazaki, Hiroaki Poinsot, Pierre Rader, Daniel J. Takahashi, Manabu Tarugi, Patrizia Traber, Maret G. Di Filippo, Mathilde Peretti, Noel |
| description | •A classification and genetic basis for hypolipidemia disorders is provided.•We suggest guidance for the diagnosis and treatment of these disorders.•We discuss challenges encountered by patients with hypolipidemia disorders.•Topics for future research are highlighted.
The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. Our mission is “to improve the lives of individuals and families affected by abetalipoproteinemia and related disorders”. This review explains the molecular mechanisms behind the monogenic hypobetalipoproteinemia disorders and details their specific pathophysiology, clinical presentation and management throughout the lifespan. In this review, we focus on abetalipoproteinemia, homozygous hypobetalipoproteinemia and chylomicron retention disease; rare genetic conditions that manifest early in life and cause severe complications without appropriate treatment. Absent to low plasma lipid levels, in particular cholesterol and triglyceride, along with malabsorption of fat and fat-soluble vitamins are characteristic features of these diseases. We summarize the genetic basis of these disorders, provide guidance in their diagnosis and suggest treatment regimens including high dose fat-soluble vitamins as therapeutics. A section on preconception counseling and other special considerations pertaining to pregnancy is included. This information may be useful for patients, caregivers, physicians and insurance agencies involved in the management and support of affected individuals. |
| doi_str_mv | 10.1016/j.jacl.2022.08.009 |
| format | Article |
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The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. Our mission is “to improve the lives of individuals and families affected by abetalipoproteinemia and related disorders”. This review explains the molecular mechanisms behind the monogenic hypobetalipoproteinemia disorders and details their specific pathophysiology, clinical presentation and management throughout the lifespan. In this review, we focus on abetalipoproteinemia, homozygous hypobetalipoproteinemia and chylomicron retention disease; rare genetic conditions that manifest early in life and cause severe complications without appropriate treatment. Absent to low plasma lipid levels, in particular cholesterol and triglyceride, along with malabsorption of fat and fat-soluble vitamins are characteristic features of these diseases. We summarize the genetic basis of these disorders, provide guidance in their diagnosis and suggest treatment regimens including high dose fat-soluble vitamins as therapeutics. A section on preconception counseling and other special considerations pertaining to pregnancy is included. This information may be useful for patients, caregivers, physicians and insurance agencies involved in the management and support of affected individuals.</description><identifier>ISSN: 1933-2874</identifier><identifier>EISSN: 1876-4789</identifier><identifier>DOI: 10.1016/j.jacl.2022.08.009</identifier><identifier>PMID: 36243606</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Abetalipoproteinemia ; Abetalipoproteinemia - diagnosis ; Abetalipoproteinemia - genetics ; Abetalipoproteinemia - therapy ; Animal biology ; Cholesterol ; Chylomicron retention disease ; Familial hypocholesterolemia ; Fat-soluble vitamins ; Homozygote ; Humans ; Hypobetalipoproteinemia ; Hypobetalipoproteinemias - diagnosis ; Hypobetalipoproteinemias - genetics ; Hypobetalipoproteinemias - therapy ; Life Sciences ; Lipid Metabolism Disorders ; Lipids ; Lipoproteins ; Triglycerides ; Vitamins</subject><ispartof>Journal of clinical lipidology, 2022-11, Vol.16 (6), p.797-812</ispartof><rights>2022</rights><rights>Copyright © 2022. Published by Elsevier Inc.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c437t-aa095e8bbaacabad5e8df7dddc26e2f5f6895cba87ecf151c595bbe57da320d03</citedby><cites>FETCH-LOGICAL-c437t-aa095e8bbaacabad5e8df7dddc26e2f5f6895cba87ecf151c595bbe57da320d03</cites><orcidid>0000-0001-9166-9006 ; 0000-0002-9663-300X ; 0000-0002-0135-6119 ; 0000-0001-9983-7027 ; 0000-0002-8701-2201 ; 0000-0002-8359-5163</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1933287422002537$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36243606$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://inserm.hal.science/inserm-03990072$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Bredefeld, Cindy</creatorcontrib><creatorcontrib>Hussain, M. Mahmood</creatorcontrib><creatorcontrib>Averna, Maurizio</creatorcontrib><creatorcontrib>Black, Dennis D.</creatorcontrib><creatorcontrib>Brin, Mitchell F.</creatorcontrib><creatorcontrib>Burnett, John R.</creatorcontrib><creatorcontrib>Charrière, Sybil</creatorcontrib><creatorcontrib>Cuerq, Charlotte</creatorcontrib><creatorcontrib>Davidson, Nicholas O.</creatorcontrib><creatorcontrib>Deckelbaum, Richard J.</creatorcontrib><creatorcontrib>Goldberg, Ira J.</creatorcontrib><creatorcontrib>Granot, Esther</creatorcontrib><creatorcontrib>Hegele, Robert A.</creatorcontrib><creatorcontrib>Ishibashi, Shun</creatorcontrib><creatorcontrib>Karmally, Wahida</creatorcontrib><creatorcontrib>Levy, Emile</creatorcontrib><creatorcontrib>Moulin, Philippe</creatorcontrib><creatorcontrib>Okazaki, Hiroaki</creatorcontrib><creatorcontrib>Poinsot, Pierre</creatorcontrib><creatorcontrib>Rader, Daniel J.</creatorcontrib><creatorcontrib>Takahashi, Manabu</creatorcontrib><creatorcontrib>Tarugi, Patrizia</creatorcontrib><creatorcontrib>Traber, Maret G.</creatorcontrib><creatorcontrib>Di Filippo, Mathilde</creatorcontrib><creatorcontrib>Peretti, Noel</creatorcontrib><title>Guidance for the diagnosis and treatment of hypolipidemia disorders</title><title>Journal of clinical lipidology</title><addtitle>J Clin Lipidol</addtitle><description>•A classification and genetic basis for hypolipidemia disorders is provided.•We suggest guidance for the diagnosis and treatment of these disorders.•We discuss challenges encountered by patients with hypolipidemia disorders.•Topics for future research are highlighted.
The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. Our mission is “to improve the lives of individuals and families affected by abetalipoproteinemia and related disorders”. This review explains the molecular mechanisms behind the monogenic hypobetalipoproteinemia disorders and details their specific pathophysiology, clinical presentation and management throughout the lifespan. In this review, we focus on abetalipoproteinemia, homozygous hypobetalipoproteinemia and chylomicron retention disease; rare genetic conditions that manifest early in life and cause severe complications without appropriate treatment. Absent to low plasma lipid levels, in particular cholesterol and triglyceride, along with malabsorption of fat and fat-soluble vitamins are characteristic features of these diseases. We summarize the genetic basis of these disorders, provide guidance in their diagnosis and suggest treatment regimens including high dose fat-soluble vitamins as therapeutics. A section on preconception counseling and other special considerations pertaining to pregnancy is included. This information may be useful for patients, caregivers, physicians and insurance agencies involved in the management and support of affected individuals.</description><subject>Abetalipoproteinemia</subject><subject>Abetalipoproteinemia - diagnosis</subject><subject>Abetalipoproteinemia - genetics</subject><subject>Abetalipoproteinemia - therapy</subject><subject>Animal biology</subject><subject>Cholesterol</subject><subject>Chylomicron retention disease</subject><subject>Familial hypocholesterolemia</subject><subject>Fat-soluble vitamins</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Hypobetalipoproteinemia</subject><subject>Hypobetalipoproteinemias - diagnosis</subject><subject>Hypobetalipoproteinemias - genetics</subject><subject>Hypobetalipoproteinemias - therapy</subject><subject>Life Sciences</subject><subject>Lipid Metabolism Disorders</subject><subject>Lipids</subject><subject>Lipoproteins</subject><subject>Triglycerides</subject><subject>Vitamins</subject><issn>1933-2874</issn><issn>1876-4789</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kDFv2zAQRokiReOk_QMdCo0ZKvVImaIIdDGMNA5goEs7EyfyVNOQRJeUDeTfh4aTjJnuhve94TH2lUPFgTc_9tUe7VAJEKKCtgLQH9iCt6opl6rVV_nXdV2KVi2v2U1KewApFchP7LpuxLJuoFmw9cPRO5wsFX2Ixbyjwnn8N4XkU4GTK-ZIOI80zUXoi93TIQz-4B2NHjOYQnQU02f2scch0ZeXe8v-_rr_s96U298Pj-vVtrTLWs0lImhJbdchWuzQ5d_1yjlnRUOil33Tamk7bBXZnktupZZdR1I5rAU4qG_Z94t3h4M5RD9ifDIBvdmstsZPieJooNYaQIkTz_jdBT_E8P9IaTajT5aGAScKx2SEEpJryHhGxQW1MaQUqX_TczDn1mZvzq3NubWB1uTWefTtxX_sRnJvk9e4Gfh5AShHOXmKJllPubXzkexsXPDv-Z8BgMSREQ</recordid><startdate>20221101</startdate><enddate>20221101</enddate><creator>Bredefeld, Cindy</creator><creator>Hussain, M. 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| subjects | Abetalipoproteinemia Abetalipoproteinemia - diagnosis Abetalipoproteinemia - genetics Abetalipoproteinemia - therapy Animal biology Cholesterol Chylomicron retention disease Familial hypocholesterolemia Fat-soluble vitamins Homozygote Humans Hypobetalipoproteinemia Hypobetalipoproteinemias - diagnosis Hypobetalipoproteinemias - genetics Hypobetalipoproteinemias - therapy Life Sciences Lipid Metabolism Disorders Lipids Lipoproteins Triglycerides Vitamins |
| title | Guidance for the diagnosis and treatment of hypolipidemia disorders |
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