Chylomicronemic syndromeE78.3
Synonym(s)
Bürger-Grütz Syndrome; Familial hyperchylomicronemia; Fat-induced hypertriglyceridemia; Hyperchylomicronemia familial; hyperlipemic idiopathic; Hyperlipoproteinemia type I; Hypertriglyceridemia Fat induced; Idiopathic hyperlipemic xanthomatosis; Idiopathic hyperlipidemic xanthomatosis; Xanthomatosis idiopathic hyperlipidemic
DefinitionThis section has been translated automatically.
Familial hyperchylomicronemia with development of multiple eruptive xanthomas, retinal lipaemia, recurrent upper abdominal colics.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive mutations of the lipoprotein lipase gene (LIPD gene; gene locus 8p22) with consecutive partial deficiency of lipoprotein lipase.
ManifestationThis section has been translated automatically.
About 10 years old.
LocalizationThis section has been translated automatically.
Mainly glutaeal region, thighs, back, chest, arms, face.
LaboratoryThis section has been translated automatically.
Increase of triglycerides and chylomicrons in serum.
TherapyThis section has been translated automatically.
Low fat, low cholesterol and high fibre diet; cooperation with the internist.
Progression/forecastThis section has been translated automatically.
Favourable if the appropriate diet is followed, otherwise cardiovascular complications.