Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Chylomicronemia

Chylomicronemia is a lipid disorder characterized by extremely elevated cholesterol and triglycerides. Lipid electrophoresis reveal chylomicrons as the major lipoprotein.

Management

For isolated lipoprotein lipase deficiency (LPLD) a new drug, tiparvovec, is undergoing clinical tests. It is injected intramuscularily where it substitutes the lacking enzyme.

Systematic

Hyperlipemia
Chylomicronemia
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomicron retention disease
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B
Familial combined Hyperlipemia
Hypercholesterolemia
Hypertriglyceridemia
Lysosomal acid lipase deficiency

References:

1.

BOGGS JD et al. (1957) The genetic mechanism of idiopathic hyperlipemia.

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2.

Feoli-Fonseca JC et al. (1998) Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.

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3.

Cantin B et al. (1995) Hemolysis in primary lipoprotein lipase deficiency.

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4.

Brunzell JD et al. (1980) Heterogeneity of primary lipoprotein lipase deficiency.

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5.

Hoeg JM et al. (1983) Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man.

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6.

Wessler S et al. (1969) Classification and management of familial hyperlipoproteinemia.

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7.

Breckenridge WC et al. (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II.

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8.

Nevin NC et al. (1968) Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.

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9.

None (1987) An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.

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10.

None (1989) Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases.

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11.

Auwerx JH et al. (1989) Defective enzyme protein in lipoprotein lipase deficiency.

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12.

None (1937) Splenomegaly with Lipaemia.

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13.

Emi M et al. (1990) Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.

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14.

Sternowsky HJ et al. (1977) Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings.

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15.

Henderson HE et al. (1991) Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

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16.

Kawashiri MA et al. (2005) Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.

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17.

HAVEL RJ et al. (1960) Idiopathic hyperlipemia: metabolic studies in an affected family.

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18.

Heaney AP et al. (1999) Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy.

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19.

OMIM.ORG article

Omim 238600 external link
20.

Wikipedia article

Wikipedia EN (Lipoprotein_lipase_deficiency) external link
Update: Aug. 14, 2020
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