Hypertriglyceridemia familial E78.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

carbohydrate-induced hyperlipidemia; carbohydrate-induced triglyceridemia; Endogenous hyperlipemia; Endogenous hypertriglyceridemia; Familial hypertriglyceridemia; Hyperlipemia endogenous; Hyperlipidemia carbohydrate-induced; Hyperlipoproteinemia type IV; Hyperprebetalipoproteinemia; Hypertriglyceridemia endogenous; Triglyceridemia carbohydrate-induced

Definition
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Molecular genetic inconsistent hyperlipoproteinemia often characterized by a decrease of HDL and an increase of triglycerides.

Occurrence/Epidemiology
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Prevalence is 1-2/100

Localization
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Mainly buttocks, thigh flexion sides.

Clinical features
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Clinically, the lipid metabolism disorder manifests itself as "hyperlipoproteinemia type 4" according to Fredrickson with obesity, peripheral circulatory disorders (arteriosclerosis), coronary insufficiency, multiple xanthomatosis, papular, normolipemic, even striated xanthomas along the hand lines. There is also an increased risk of pancreatitis. Possibly fatty liver and diabetes type 2.

Laboratory
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Serum is clear or milky turbid; increase of pre-β lipoproteins, triglycerides and reduced glucose tolerance.

Therapy
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Metabolic adjustment in cooperation with the internist; possibly surgical removal of the xanthomas.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020