title: Cognitive impairment and polidistrectual atherosclerotic disease in chylomicronemia syndrome: a case report.
abstract: A case of chylomicronemia syndrome is reported in a 72-year-old male with distinctive features of chronic pancreatic damage, severe hypertriglyceridemia, polidistrectual atherosclerosis and premature cognitive impairment. Although the patient had a positive history for recurrent episodes of pancreatitis the characteristic lesions of the hyperchylomicronemia syndrome, such as eruptive xanthomas and lipemia retinalis, were not present and splenomegaly could not be documented due to a previous post-traumatic splenectomy. Based on clinical phenotype, an apolipoprotein C-II deficiency was excluded by a fresh plasma infusion test, in which clarification of the patient plasma was not obtained. The absence of changes in the lipoprotein electrophoretic plasma after heparin infusion can be secondary to a lipoprotein lipase deficiency, a rare genetic disorder with an incidence of one per million. In relation to the resistance to diet and drugs, plasma exchange therapy was performed. After 3 years of this treatment there was no significant progression of atherosclerosis.
authors.affiliation: Fondazione Toscana Gabriele Monasterio, Pisa, Italy. Electronic address: francesco.sbrana@ftgm.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Sbrana
authors.forename: Mariarita
authors.initials: M
authors.lastname: Puntoni
authors.forename: Federico
authors.initials: F
authors.lastname: Bigazzi
authors.forename: Marco
authors.initials: M
authors.lastname: Margelli
authors.forename: Christina
authors.initials: C
authors.lastname: Petersen
authors.forename: Mascia
authors.initials: M
authors.lastname: Pianelli
authors.forename: Roberta
authors.initials: R
authors.lastname: Luciani
authors.forename: Rosaria
authors.initials: R
authors.lastname: Bonini
authors.forename: Mauro
authors.initials: M
authors.lastname: Ferrari
authors.forename: Tiziana
authors.initials: T
authors.lastname: Sampietro
mesh_terms: D000368:Aged; D050197:Atherosclerosis / Q000097:blood / Q000150:complications / Q000473:pathology / Q000628:therapy; D002908:Chronic Disease; D003072:Cognition Disorders / Q000097:blood / Q000150:complications / Q000473:pathology / Q000628:therapy; D006801:Humans; D006951:Hyperlipoproteinemias / Q000097:blood / Q000150:complications / Q000473:pathology / Q000628:therapy; D008297:Male; D010182:Pancreatic Diseases / Q000097:blood / Q000150:complications / Q000473:pathology / Q000628:therapy
keywords: Atherosclerosis; Hyperlipidemia; Lipoprotein lipase deficiency; Plasma exchange therapy