title: Sitosterolemia: a new mutation in a Mediterranean patient.
abstract: Sitosterolemia is a rare autosomal recessive disorder characterised by a high plasma level of sterols. A homozygous mutation or the compound heterozygous mutation in the ABCG5 gene or the ABCG8 gene leads to a complete loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8, which is localised to the apical membrane of enterocytes and hepatocytes. In enterocytes, this complex rejects plant sterols, whereas it promotes their excretion into the bile in the liver. The loss of function of the transporter ABCG5-G8 leads to a high concentration of plasma plant sterols and to its accumulation in tissues. We report here a new mutation of sitosterolemia in a 59-year-old woman with xanthelasma, precocious atherosclerosis, haemolytic anemia and macrothrombocytopenia. She was treated before the availability of Ezetimibe wich is now the gold standard treatment of this disease.
authors.affiliation: Aix-Marseille Université, Marseille, France; Assistance Publique des Hôpitaux de Marseille (APHM), Hôpital de la Timone, Service de Médecine Interne, Marseille, France. Electronic address: melenotteclea@yahoo.fr.
authors.forename: Cléa
authors.initials: C
authors.lastname: Melenotte
authors.affiliation: Université Pierre et Marie Curie (UPMC), Paris VI; INSERM UMRS939, Hôpital de la Pitié, Paris, France; Institute of Cardiometabolism and Nutrition (ICAN), Hôpital de la Pitié, Paris, France; Assistance Publique des Hôpitaux de Paris (APHP), Service de Biochimie Endocrinienne et Oncologique, Groupe Hospitalier Universitaire La Pitié Salpêtrière - Charles Foix, Paris, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Carrié
authors.affiliation: Aix-Marseille Université, Marseille, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Serratrice
authors.affiliation: Aix-Marseille Université, Marseille, France; Assistance Publique des Hôpitaux de Marseille (APHM), Hôpital de la Timone, Service de Médecine Interne, Marseille, France.
authors.forename: Pierre-Jean
authors.initials: PJ
authors.lastname: Weiller
mesh_terms: D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000740:Anemia / Q000175:diagnosis* / Q000235:genetics; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001384:Azetidines / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D038441:Diet, Mediterranean / Q000009:adverse effects; D020895:Enterocytes / Q000502:physiology*; D000069438:Ezetimibe; D005260:Female; D005602:France; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008074:Lipoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010840:Phytosterols / Q000009:adverse effects* / Q000235:genetics; D019821:Simvastatin / Q000008:administration & dosage*; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics
chemical_list: C416945:ABCG5 protein, human; D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D018528:ATP-Binding Cassette Transporters; D000924:Anticholesteremic Agents; D001384:Azetidines; D008074:Lipoproteins; D010840:Phytosterols; D019821:Simvastatin; D000069438:Ezetimibe
keywords: Mediterranean diet; Phytosterolemia; Sitosterolemia