Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?
| Autor: | S. Sissaoui, Claire Bordat, Florence Lacaille, Sophie Collardeau-Frachon, Noël Peretti, Manon Cochet, Alain Lachaux, Pierre Poinsot |
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| Přispěvatelé: | Gastro-Entérologie, Hépatologie et Nutrition pédiatriques (CHU Necker - Enfants Malades [AP-HP]), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence pour l'atrésie des voies biliaires et la cholestase génétique [CHU Necker] (CRAVBCG), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre de référence pour les maladies rares de l'intestin/Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Hospices Civils de Lyon (HCL), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CarMeN, laboratoire, Gastro-Entérologie, Hépatologie et Nutrition, Pédiatriques (CHU Necker - Enfants Malades [AP-HP]), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
medicine.medical_specialty Apolipoprotein B chylomicron retention disease medicine.medical_treatment [SDV]Life Sciences [q-bio] growth failure vitamin E Gastroenterology Hypobetalipoproteinemias 03 medical and health sciences 0302 clinical medicine Intestinal mucosa abetalipoproteinemia 030225 pediatrics Internal medicine Biopsy medicine Humans Child acanthocytes Apolipoproteins B hypocholesterolemia biology medicine.diagnostic_test business.industry Vitamin E Abetalipoproteinemia hypobetalipoproteinemia medicine.disease Lipids 3. Good health [SDV] Life Sciences [q-bio] Hypocholesterolemia Pediatrics Perinatology and Child Health biology.protein 030211 gastroenterology & hepatology Hypobetalipoproteinemia fat-soluble vitamins business Chylomicron retention disease |
| Zdroj: | Journal of Pediatric Gastroenterology and Nutrition Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, 73 (1), pp.4-8. ⟨10.1097/mpg.0000000000003145⟩ |
| ISSN: | 0277-2116 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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