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GTR Home > Conditions/Phenotypes > Hyperlipoproteinemia, type I

Hyperlipoproteinemia, type I

Synonyms
Familial Lipoprotein Lipase Deficiency; Familial chylomicronemia; Familial hyperlipo-proteinemia type 1; HYPERLIPOPROTEINEMIA, TYPE IA; Hyperchylomicro-nemia familial; Hyperlipemia essential familial; Hyperlipemia idiopathic Burger-Grutz type; Hyperlipoproteinemia type 1; LPL deficiency; Lipase D deficiency; Lipoprotein lipase deficiency

Summary

Excerpted from the GeneReview: Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to ≤20 g/day.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
John R Burnett
Amanda J Hooper
Robert A Hegele
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Available tests

54 tests are in the database for this condition.

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Clinical tests (51 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: HDLCQ11, LIPD, LPL
    Summary: lipoprotein lipase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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