{"id":2567,"date":"2010-01-30T16:20:53","date_gmt":"2010-01-30T21:20:53","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=2567"},"modified":"2010-01-30T16:20:53","modified_gmt":"2010-01-30T21:20:53","slug":"abetalipoproteinemia-bassen-kornzweig-syndrome","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2010\/01\/abetalipoproteinemia-bassen-kornzweig-syndrome\/","title":{"rendered":"Abetalipoproteinemia (Bassen-Kornzweig Syndrome)"},"content":{"rendered":"

Pathophysiology<\/strong><\/p>\n

type of lipid disorder<\/p>\n

Signs and Symptoms<\/strong> <\/p>\n

1)<\/strong> sensory ataxia 2)<\/strong> loss of deep tendon reflexes 3)<\/strong> retinitis pigmentosa
\n
\nCharacteristic Test Findings<\/strong><\/p>\n

Laboratory<\/em> – 1)<\/strong> absence of chylomicrons, LDLs, and VLDLs 2)<\/strong> decreased triglycerides 3)<\/strong> decreased cholesterol 4)<\/strong> only mild anemia despite significant acanthocytosis (Burr’s cells)<\/p>\n

Histology\/Gross Pathology<\/strong><\/p>\n

1)<\/strong> demyelinization of selective CNS tissues, particularly posterior columns 2)<\/strong> acanthocytosis (RBCs look like they have spurs protruding from membranes) 3)<\/strong> pigmentary retinopathy 4)<\/strong> epithelial cells of gut have lipid vacuoles<\/p>\n

Biochemistry<\/strong><\/p>\n

absorptive cells in GI tract lack ability to make apoprotein B, which is used to build the membranes of chylomicrons and lipoproteins<\/p>\n

Inheritance\/Epidemiology<\/strong><\/p>\n

autosomal recessive<\/p>\n

Treatment<\/strong><\/p>\n

1)<\/strong> avoidance in diet of long-chain triglycerides that require chylomicrons (apoprotein coat) for transport 2)<\/strong> substitution of medium-chain triglycerides that do not require chylomicrons for transport across the epithelial membrane in the gut<\/p>\n

Tips for USMLE<\/strong><\/p>\n

main hallmarks – acanthocytosis (Burr’s cells), absence of apoprotein B, chylomicrons, LDLs, and VLDLs<\/p>\n","protected":false},"excerpt":{"rendered":"

Pathophysiology type of lipid disorder Signs and Symptoms 1) sensory ataxia 2) loss of deep tendon reflexes 3) retinitis pigmentosa Characteristic Test Findings Laboratory – 1) absence of chylomicrons, LDLs, and VLDLs 2) decreased triglycerides 3) decreased cholesterol 4) only mild anemia despite significant acanthocytosis (Burr’s cells) Histology\/Gross Pathology 1) demyelinization of selective CNS tissues, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[63],"tags":[1127,1128,1129,1124,1125,1126],"yoast_head":"\nAbetalipoproteinemia (Bassen-Kornzweig Syndrome) - 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