Chylomicronemic syndrome E78.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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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

Definition
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Familial hyperchylomicronemia with development of multiple eruptive xanthomas, retinal lipaemia, recurrent upper abdominal colics.

Etiopathogenesis
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Autosomal recessive mutations of the lipoprotein lipase gene (LIPD gene; gene locus 8p22) with consecutive partial deficiency of lipoprotein lipase.

Manifestation
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About 10 years old.

Localization
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Mainly glutaeal region, thighs, back, chest, arms, face.

Laboratory
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Increase of triglycerides and chylomicrons in serum.

Therapy
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Low fat, low cholesterol and high fibre diet; cooperation with the internist.

Progression/forecast
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Favourable if the appropriate diet is followed, otherwise cardiovascular complications.

Outgoing links (1)

Xanthome eruptive;

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Last updated on: 29.10.2020