Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?. Issue 1 (July 2021)

• Record Type: Journal Article
• Authors: Sissaoui, Samira; Cochet, Manon; Poinsot, Pierre; Bordat, Claire; Collardeau-Frachon, Sophie; Lachaux, Alain; Lacaille, Florence; Peretti, Noël
• Is Part Of: Journal of pediatric gastroenterology and nutrition. Volume 73:Issue 1(2021)
• Publication Date: 2021-07
• Subjects: abetalipoproteinemia -- acanthocytes -- chylomicron retention disease -- fat-soluble vitamins -- growth failure -- hypobetalipoproteinemia -- hypocholesterolemia -- vitamin E; Children -- Nutrition -- Periodicals; Pediatric gastroenterology -- Periodicals; Infants -- Nutrition -- Periodicals; Nutrition disorders in children -- Periodicals; Child Nutrition -- Periodicals; Digestive System -- growth & development -- Periodicals; Gastrointestinal Diseases -- Periodicals; Infant Nutrition -- Periodicals; Nutrition Disorders -- Periodicals; Child; 618.923
• DOI: 10.1097/MPG.0000000000003145
• Languages: English
• ISSNs: 0277-2116

Abstract

Abstract : ABSTRACT: Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprotein B. In children, these conditions present with diarrhoea and growth failure, whereas adults present with neuromuscular, ophthalmological, and hepatic symptoms. Simple laboratory investigations have shown that diagnosis can be made from findings of dramatically decreased cholesterol levels, deficiencies in fat-soluble vitamins (mostly vitamin E), endoscopic findings of the characteristic white intestinal mucosa, and fat-loaded enterocytes in biopsy samples. Genetic analysis is used to confirm the diagnosis. Treatment is based on a low-fat diet with essential fatty acid supplementation, high doses of fat-soluble vitamins, and regular and life-long follow-up. The present study examines cases and literature findings of these conditions, and emphasises the need to explore severe hypocholesterolemia and deficiencies in fat-soluble vitamins to not miss these rare, but easy to diagnose and treat, disorders. Abstract : Supplemental Digital Content is available in the text