Abstract | INTRODUCTION: Hypocholesterolemia results from genetic - both monogenic and polygenic - and non-genetic causes and can sometimes be a source of clinical concern. We review etiologies and sequelae of hypocholesterolemia and therapeutics inspired from genetic hypocholesterolemia. AREAS COVERED: EXPERT OPINION: In patients with severe monogenic hypocholesterolemia, early initiation of high-dose vitamin therapy and a low-fat diet are essential for optimal prognosis. The molecular basis of monogenic hypocholesterolemia has inspired novel therapeutics to help patients with the opposite phenotype - i.e. elevated apo B-containing lipoproteins. In particular, inhibitors of PCSK9 and ANGPTL3 show important clinical impact.
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Authors | Praneet K Gill, Robert A Hegele |
Journal | Expert review of endocrinology & metabolism
(Expert Rev Endocrinol Metab)
Vol. 18
Issue 3
Pg. 241-253
(05 2023)
ISSN: 1744-8417 [Electronic] England |
PMID | 37089071
(Publication Type: Review, Journal Article)
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Chemical References |
- PCSK9 protein, human
- Proprotein Convertase 9
- Apolipoproteins B
- Lipoproteins
- Cholesterol
- ANGPTL3 protein, human
- Angiopoietin-Like Protein 3
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Topics |
- Humans
- Proprotein Convertase 9
- Hypobetalipoproteinemias
(complications, genetics, therapy)
- Apolipoproteins B
(genetics)
- Lipoproteins
- Cholesterol
- Angiopoietin-Like Protein 3
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