Guidance for the diagnosis and treatment of hypolipidemia disorders
2022
Bredefeld, C. | Hussain, M. M. | Averna, M. | Black, D. D. | Brin, M. F. | Burnett, J. R. | Charrière, S. | Cuerq, C. | Davidson, N. O. | Deckelbaum, R. J. | Goldberg, I. J. | Granot, E. | Hegele, R. A. | Ishibashi, S. | Karmally, W. | Levy, E. | Moulin, P. | Okazaki, H. | Poinsot, P. | Rader, D. J. | Takahashi, M. | Tarugi, P. | Traber, M. G. | Di Filippo, M. | Peretti, N. | Long Island University, Brooklyn (LIU Brooklyn) | New York University Langone Medical Center (NYU Langone Medical Center) ; NYU System (NYU) | Dipartimento Universitario di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza "G. D'Alessandro" [Palerme, Italie] (PROMISE) ; Università degli studi di Palermo - University of Palermo (UNIPA) | Le Bonheur Children's Hospital [Memphis, TN, USA] (LBCH) | The University of Tennessee Health Science Center [Memphis] (UTHSC) | University of California [Irvine] (UC Irvine) ; University of California (UC) | The University of Western Australia (UWA) | Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN) ; Université Claude Bernard Lyon 1 (UCBL) ; Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE) | Hospices Civils de Lyon (HCL) | Washington University School of Medicine [Saint Louis, MO] | Columbia University Irving Medical Center (CUIMC) | New York University School of Medicine (NYU Grossman School of Medicine) | Hadassah Hebrew University Medical Center [Jerusalem] | Kaplan Medical Center [Rehovot, Israel] | University of Western Ontario (UWO) | Jichi Medical University [Tochigi-Ken, Japan] | Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada] ; Université de Montréal (UdeM)-CHU Sainte Justine [Montréal] | University of Tokyo [Tokyo] = Tōkyō teikoku daigaku (UTokyo) | Hôpital Femme Mère Enfant [CHU - HCL] (HFME) ; Hospices Civils de Lyon (HCL) | University of Pennsylvania | Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE) | Oregon State University (OSU)
International audience
Mostrar más [+] Menos [-]Inglés. 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.
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Información bibliográfica
Este registro bibliográfico ha sido proporcionado por Institut national de la recherche agronomique