Cognitive impairment and polidistrectual atherosclerotic disease in chylomicronemia syndrome: A case report
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- 作者：Francesco Sbrana ; Mariarita Puntoni ; Federico Bigazzi ; Marco Margelli ; Christina Petersen ; Mascia Pianelli ; Roberta Luciani ; Rosaria Bonini ; Mauro Ferrari ; Tiziana Sampietro
- 关键词：Hyperlipidemia ; Lipoprotein lipase deficiency ; Atherosclerosis ; Plasma exchange therapy
- 刊名：Transfusion and Apheresis Science
- 出版年：October, 2013
- 年：2013
- 卷：49
- 期：2
- 页码：323-327
- 全文大小：1065 K
文摘
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.