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. RaderManabu Takahashi, Patrizia Tarugi, Maret G. Traber, Mathilde Di Filippo, Noel Peretti

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations


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.

Original languageEnglish
Pages (from-to)797-812
Number of pages16
JournalJournal of Clinical Lipidology
Issue number6
StatePublished - Nov 1 2022


  • Abetalipoproteinemia
  • Cholesterol
  • Chylomicron retention disease
  • Familial hypocholesterolemia
  • Fat-soluble vitamins
  • Hypobetalipoproteinemia
  • Lipids
  • Lipoproteins
  • Triglycerides


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