SAT-565 Familial Homozygous Lipoprotein Lipase Defect Presenting with Recurrent Chylomicronemia Syndrome: Making a Case for Elective Plasmapheresis as an Adjuvant Treatment Modality
نویسندگان
چکیده
منابع مشابه
Two Case Reports of Familial Chylomicronemia Syndrome
Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
متن کاملFamilial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
Complete deficiency of lipoprotein lipase (LPL) causes the chylomicronemia syndrome. To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene. We used the polymerase chain reaction to examine the nine coding LPL exons in the two affected siblings and three relatives. DNA sequen...
متن کاملPremature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
BACKGROUND Patients with lipoprotein lipase deficiency usually present with chylomicronemia in childhood. The syndrome has been considered nonatherogenic primarily because of the low levels of low-density lipoprotein (LDL) cholesterol. We prospectively evaluated patients with lipoprotein lipase deficiency for atherosclerosis. METHODS Evidence of carotid, peripheral, and coronary atheroscleros...
متن کاملA case report of 5 y/o girl with familial chylomicronemia
Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. Case presentation: We report a rare case of...
متن کاملFamilial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity.
A mother and her son who have lipoprotein phenotype I are described. They differed from subjects with lipoprotein lipase deficiency in that lipoprotein lipase was present in adipose tissue respectively at 30- and 2-fold the levels seen in normal subjects, and from subjects with apoprotein C-II deficiency in that apoprotein C-II was present in their plasma. They appeared to have an inhibitor to ...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.1507