Severe xanthomatosis associated with familial apolipoprotein E deficiency.
AIM: To present the clinical, dermatological, and histological features of a patient with generalised xanthomatosis, familial apolipoprotein (apo) E deficiency, and unusual type III hyperlipoproteinaemia (HLP). METHODS: The underlying molecular defect was disclosed using molecular biological techniq...
Gespeichert in:
| 1. Verfasser: | |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
December 1, 1996
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| In: |
Journal of clinical pathology
Year: 1996, Jahrgang: 49, Heft: 12, Pages: 985-989 |
| ISSN: | 1472-4146 |
| DOI: | 10.1136/jcp.49.12.985 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jcp.49.12.985 Verlag, lizenzpflichtig, Volltext: https://jcp.bmj.com/content/49/12/985 
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| Verfasserangaben: | G. Feussner |
MARC
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| 520 | |a AIM: To present the clinical, dermatological, and histological features of a patient with generalised xanthomatosis, familial apolipoprotein (apo) E deficiency, and unusual type III hyperlipoproteinaemia (HLP). METHODS: The underlying molecular defect was disclosed using molecular biological techniques. The unusual xanthomas were histologically analysed and the morphology of the abnormal lipoprotein particles examined using electron microscopy. RESULTS: A 10 base pair deletion in exon 4 of the proband's apo epsilon gene (base pairs 4037-4046 coding for amino acids 209-212 of the mature protein) was identified. This is predictive for a reading frameshift encoding a premature stop (TGA) in codon 229. The mutation is responsible for delayed catabolism of atherogenic lipoprotein remnants, lipid storage in monocyte/macrophages, and phenotypic expression of xanthomatosis early in life. CONCLUSIONS: Familial apo E deficiency is a rare genetic disease which offers the unique opportunity to study the impact of apo E on lipoprotein metabolism and development of atherosclerosis in humans. | ||
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