Abstract | INTRODUCTION: CASE-REPORT: DISCUSSION:
Familial hyperchylomicronemia usually presents with eruptiva xanthomas, abdominal pain, pancreatic manifestation and lipemia retinalis. Papulo-nodular xanthomas occur more frequently in children as in our case. Eighty lipoprotein lipase gene mutations have been recorded to date. The gene locates on chromosome 8. Only 9 non-sense mutations have been described which lead to a truncated protein. In our case, no enzymatic activity was detected probably due to an absence of secretion of the enzyme, even though catalytic activity persisted. The homozygous carrier status leads to hyperchylomicronemia whereas the heterozygote status may lead to mixed hyperlipidemia with an increased risk of atherosclerosis. The screening of lipoprotein lipase gene mutations should be carried out in all families with hyperchylomicronemia, regardless of the presence or absence of xanthomas.
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Authors | A S Causeret, A L Souillet, C Marcais, V Prunetta, A Lachaux, M Faure, A Claudy |
Journal | Annales de dermatologie et de venereologie
(Ann Dermatol Venereol)
Vol. 128
Issue 12
Pg. 1343-5
(Dec 2001)
ISSN: 0151-9638 [Print] France |
Vernacular Title | Hyperchylomicronémie familiale avec nouvelle mutation du gène de la lipoprotéine lipase. |
PMID | 11908140
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Chylomicrons
- Codon, Nonsense
- Lipoproteins
- Lipoprotein Lipase
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Topics |
- Chromosome Aberrations
- Chromosomes, Human, Pair 8
- Chylomicrons
(blood)
- Codon, Nonsense
(genetics)
- Consanguinity
- Exons
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Homozygote
- Humans
- Hyperlipoproteinemia Type I
(genetics)
- Infant
- Lipoprotein Lipase
(deficiency, genetics)
- Lipoproteins
(blood)
- Polymorphism, Single-Stranded Conformational
- Wolman Disease
(genetics)
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