Guidance for the diagnosis and treatment of hypolipidemia disorders

Cindy Bredefeld; M Mahmood Hussain; Maurizio Averna; Dennis D Black; Mitchell F Brin; John R Burnett; Sybil Charrière; Charlotte Cuerq; Nicholas O Davidson; Richard J Deckelbaum; Ira J Goldberg; Esther Granot; Robert A Hegele; Shun Ishibashi; Wahida Karmally; Emile Levy; Philippe Moulin; Hiroaki Okazaki; Pierre Poinsot; Daniel J Rader; Manabu Takahashi; Patrizia Tarugi; Maret G Traber; Mathilde Di Filippo; Noel Peretti

doi:10.1016/j.jacl.2022.08.009

Guidance for the diagnosis and treatment of hypolipidemia disorders

J Clin Lipidol. 2022 Nov-Dec;16(6):797-812. doi: 10.1016/j.jacl.2022.08.009. Epub 2022 Sep 29.

Authors

Cindy Bredefeld¹, M Mahmood Hussain², Maurizio Averna³, Dennis D Black⁴, Mitchell F Brin⁵, John R Burnett⁶, Sybil Charrière⁷, Charlotte Cuerq⁸, Nicholas O Davidson⁹, Richard J Deckelbaum¹⁰, Ira J Goldberg¹¹, Esther Granot¹², Robert A Hegele¹³, Shun Ishibashi¹⁴, Wahida Karmally¹⁵, Emile Levy¹⁶, Philippe Moulin⁷, Hiroaki Okazaki¹⁷, Pierre Poinsot¹⁸, Daniel J Rader¹⁹, Manabu Takahashi¹⁴, Patrizia Tarugi²⁰, Maret G Traber²¹, Mathilde Di Filippo²², Noel Peretti²³

Affiliations

¹ Department of Medicine, New York University Long Island School of Medicine, NYU Langone Hospital-Long Island, Mineola, New York 11501, USA (Dr Bredefeld).
² Department of Foundations of Medicine, New York University Long Island School of Medicine, NYU Langone Hospital-Long Island, Mineola, New York 11501, USA (Dr Hussain). Electronic address: mahmood.hussain@nyulangone.org.
³ Department. of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo-School of Medicine, Via del Vespro, 129-90127 Palermo, Italy (Dr Averna).
⁴ University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee 38103, USA (Dr Black).
⁵ Department of Neurology, University of California, and Allergan, Inc., an AbbVie Company, Irvine, California, USA (Dr Brin).
⁶ Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, and School of Medicine, University of Western Australia, Perth, Australia (Dr Burnett).
⁷ Department of Endocrinology, Metabolic Disease, Diabetes and Nutrition, Hospices Civils de Lyon, Lyon, France (Drs Charrière and Moulin); CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti).
⁸ CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti); Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France (Drs Cuerq, and Di Filippo).
⁹ Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA (Dr Davidson).
¹⁰ Departments of Pediatrics and Epidemiology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York 10032, USA (Dr Deckelbaum).
¹¹ Division of Endocrinology, Department of Medicine, New York University Grossman School of Medicine, New York, New York, USA (Dr Goldberg).
¹² Department of Pediatrics, Pediatric Hepatology Service, Kaplan Medical Center, Rehovot, and Hebrew University-Hadassah Medical School, Jerusalem, Israel (Dr Granot).
¹³ Robarts Research Institute, University of Western Ontario, London, Ontario, Canada (Dr Hegele).
¹⁴ Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan (Drs Ishibashi, Okazaki, and Takahashi).
¹⁵ Columbia University Irving Medical Center, New York, New York 10032, USA (Dr Karmally).
¹⁶ Research Centre, CHU-Sainte-Justine, and Université de Montréal, Montreal, Québec, Canada (Dr Levy).
¹⁷ Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan (Drs Ishibashi, Okazaki, and Takahashi); Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan (Dr Okazaki).
¹⁸ Department of Pediatric Gastroenterology-Hepatology and Nutrition, Hospices Civil de Lyon, Hôpital Femme Mere Enfant, F-69500 Bron, France (Drs Poinsot and Peretti).
¹⁹ Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA (Dr Rader).
²⁰ Department of Life Sciences, University of Modena and Reggio Emilia, Italy (Dr Tarugi).
²¹ Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA (Dr Traber).
²² Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France (Drs Cuerq, and Di Filippo).
²³ CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti); Department of Pediatric Gastroenterology-Hepatology and Nutrition, Hospices Civil de Lyon, Hôpital Femme Mere Enfant, F-69500 Bron, France (Drs Poinsot and Peretti).

PMID: 36243606
DOI: 10.1016/j.jacl.2022.08.009

Abstract

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.

Keywords: Abetalipoproteinemia; Cholesterol; Chylomicron retention disease; Familial hypocholesterolemia; Fat-soluble vitamins; Hypobetalipoproteinemia; Lipids; Lipoproteins; Triglycerides.

Publication types

Review

MeSH terms

Abetalipoproteinemia* / diagnosis
Abetalipoproteinemia* / genetics
Abetalipoproteinemia* / therapy
Homozygote
Humans
Hypobetalipoproteinemias* / diagnosis
Hypobetalipoproteinemias* / genetics
Hypobetalipoproteinemias* / therapy
Lipid Metabolism Disorders*
Vitamins

Substances

Vitamins