Abstract | OBJECTIVE: METHODS: We reviewed our 3405-patient lipid clinic database to identify persons with dyslipidemia and splenomegaly. Identified patients were evaluated for relevant disorders, including genetic testing for a 3-base pair deletion in APOE that causes deletion of leucine at position 167 of apolipoprotein E. RESULTS: CONCLUSION:
Splenomegaly in association with dyslipidemia may indicate the presence of an underlying disorder. We discuss possible causes, review the literature relating to the rare APOE p.Leu167del mutation, and present a 3-generation kindred with variable phenotypic expression of this mutation. Severity of expression may depend on genotype, sex, or effective medical management of dyslipidemia or a combination of these factors. Aggressive lipid treatment may improve or prevent splenomegaly among patients with this disorder.
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Authors | Daniel E Okorodudu, Matthew J Crowley, Siby Sebastian, Jennifer V Rowell, John R Guyton |
Journal | Journal of clinical lipidology
(J Clin Lipidol)
2013 Nov-Dec
Vol. 7
Issue 6
Pg. 566-72
ISSN: 1933-2874 [Print] United States |
PMID | 24314356
(Publication Type: Journal Article, Review)
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Copyright | Copyright © 2013 National Lipid Association. All rights reserved. |
Chemical References |
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Topics |
- Apolipoproteins E
(genetics, metabolism)
- Dyslipidemias
(complications, genetics, pathology)
- Gene Deletion
- Genotype
- Humans
- Splenomegaly
(etiology, genetics, pathology)
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