Type I hyperlipoproteinemia

GPTKB entity

Statements (21)
Predicate Object
gptkbp:instanceOf genetic disorder
hyperlipoproteinemia
gptkbp:alsoKnownAs familial chylomicronemia
familial lipoprotein lipase deficiency
gptkbp:causedBy ApoC-II deficiency
lipoprotein lipase deficiency
gptkbp:characterizedBy eruptive xanthomas
recurrent pancreatitis
severe hypertriglyceridemia
elevated chylomicrons
lipemia retinalis
gptkbp:diagnosedBy fasting lipid profile
gptkbp:firstDescribed 1950s
https://www.w3.org/2000/01/rdf-schema#label Type I hyperlipoproteinemia
gptkbp:ICD-10_code E78.3
gptkbp:inheritance autosomal recessive
gptkbp:prevalence rare
gptkbp:treatment low-fat diet
avoidance of alcohol
gptkbp:bfsParent gptkb:FCS_syndrome
gptkbp:bfsLayer 7