ALLMedicine™ Hypobetalipoproteinemia Center

Jan 7th, 2023 - This review aims to summarize the most recently published literature highlighting the potential of pharmacological inhibition of ANGPTL3 in treating patients suffering from dyslipidemias. The rational for this strategy will be discussed considerin...

Sep 2nd, 2022 - In mice, GPR146 (G-protein-coupled receptor 146) deficiency reduces plasma lipids and protects against atherosclerosis. Whether these findings translate to humans is unknown. Common and rare genetic variants in the GPR146 gene locus were used as r...

Jul 17th, 2022 - Nonalcoholic fatty liver disease (NAFLD) is well recognized as a leading etiology for chronic liver disease, affecting >25% of the US and global populations. Up to 1 in 4 individuals with NAFLD have nonalcoholic steatohepatitis, which is associate...

May 19th, 2022 - Cirrhosis is defined anatomically as a diffuse process with fibrosis and nodule formation. It is the result of the fibrogenesis that occurs with chronic liver injury. Lipoproteins are complexes of lipid and proteins that are essential for transpor...

Mar 9th, 2022 - The goal is to recruit 400 subjects: 200 adult subjects with familial hypobetalipoproteinemia (FHBL) (index cases) plus 200 additional related subjects in at least 10 large informative FHBL families, in which there is no known mutation in FHBL gen...

Jul 17th, 2022 - Nonalcoholic fatty liver disease (NAFLD) is well recognized as a leading etiology for chronic liver disease, affecting >25% of the US and global populations. Up to 1 in 4 individuals with NAFLD have nonalcoholic steatohepatitis, which is associate...

May 19th, 2022 - Cirrhosis is defined anatomically as a diffuse process with fibrosis and nodule formation. It is the result of the fibrogenesis that occurs with chronic liver injury. Lipoproteins are complexes of lipid and proteins that are essential for transpor...

Mar 9th, 2022 - The goal is to recruit 400 subjects: 200 adult subjects with familial hypobetalipoproteinemia (FHBL) (index cases) plus 200 additional related subjects in at least 10 large informative FHBL families, in which there is no known mutation in FHBL gen...

Sep 16th, 2021 - Some forms of hypobetalipoproteinemia (HBL) are associated with a longevity syndrome and cardiovascular protection due to prolonged exposure to low levels of LDL-C. However, while LDL-C reduction has been studied extensively for its beneficial eff...

Feb 20th, 2020 - The pilot study has the target to evaluate the outcomes of two novel mutations in the gene of Apolipoprotein B (ApoB). ApoB is the main part of the low-density lipoprotein (LDL). LDL is the main transporter of cholesterol from the liver to the per...

Jul 14th, 2017 - Familial hypobetalipoproteinemia (FHBL, OMIM # 1707730) is a genetic disorder heterozygotic of LDL-C metabolism (Low Density Lipoprotein - Cholesterol) whose incidence is measured from 1: 500 to 1: 1000. These heterozygous individuals may be asymp...

Sep 20th, 2016 - Defining an Effective Management Strategy When it comes to managing these patients, awareness and case recognition are crucial. An initial step in the evaluation of lean patients with presumed NAFLD is to rule out metabolic causes of fatty liver. ...

Jan 21st, 2011 - The Spectrum of Nonalcoholic Fatty Liver Nonalcoholic fatty liver disease (NAFLD) includes the clinical-pathologic entities of steatosis (nonalcoholic fatty liver, or NAFL) and nonalcoholic steatohepatitis (NASH) with or without fibrosis and cirrh...

Dec 10th, 2010 - Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia Musunuru K, Pirruccello JP, Do R, et al N Engl J Med. 2010 Oct 13 [Epub ahead of print] Summary Familial hypobetalipoproteinemia (FHBL) is an uncommon inherited disorder char...