TY - JOUR
T1 - Guidance for the diagnosis and treatment of hypolipidemia disorders
AU - Bredefeld, Cindy
AU - Hussain, M. Mahmood
AU - Averna, Maurizio
AU - Black, Dennis D.
AU - Brin, Mitchell F.
AU - Burnett, John R.
AU - Charrière, Sybil
AU - Cuerq, Charlotte
AU - Davidson, Nicholas O.
AU - Deckelbaum, Richard J.
AU - Goldberg, Ira J.
AU - Granot, Esther
AU - Hegele, Robert A.
AU - Ishibashi, Shun
AU - Karmally, Wahida
AU - Levy, Emile
AU - Moulin, Philippe
AU - Okazaki, Hiroaki
AU - Poinsot, Pierre
AU - Rader, Daniel J.
AU - Takahashi, Manabu
AU - Tarugi, Patrizia
AU - Traber, Maret G.
AU - Di Filippo, Mathilde
AU - Peretti, Noel
N1 - Publisher Copyright:
© 2022
PY - 2022/11/1
Y1 - 2022/11/1
N2 - 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.
AB - 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.
KW - Abetalipoproteinemia
KW - Cholesterol
KW - Chylomicron retention disease
KW - Familial hypocholesterolemia
KW - Fat-soluble vitamins
KW - Hypobetalipoproteinemia
KW - Lipids
KW - Lipoproteins
KW - Triglycerides
UR - http://www.scopus.com/inward/record.url?scp=85144586961&partnerID=8YFLogxK
U2 - 10.1016/j.jacl.2022.08.009
DO - 10.1016/j.jacl.2022.08.009
M3 - Review article
C2 - 36243606
AN - SCOPUS:85144586961
SN - 1933-2874
VL - 16
SP - 797
EP - 812
JO - Journal of Clinical Lipidology
JF - Journal of Clinical Lipidology
IS - 6
ER -