Severe xanthomatosis associated with familial apolipoprotein E deficiency.

• Verfasst von: Feussner, Giso [VerfasserIn]
• Titel: Severe xanthomatosis associated with familial apolipoprotein E deficiency.
• Verf.angabe: G. Feussner
• E-Jahr: 1996
• Jahr: December 1, 1996
• Umfang: 5 S.
• Fussnoten: Elektronische Reproduktion der Druck-Ausgabe 18. April 2016 ; Gesehen am 27.01.2025
• Titel Quelle: Enthalten in: Journal of clinical pathology
• Ort Quelle: London : BMJ Publ. Group, 1947
• Jahr Quelle: 1996
• Band/Heft Quelle: 49(1996), 12, Seite 985-989
• ISSN Quelle: 1472-4146
• DOI: doi:10.1136/jcp.49.12.985
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1915668980

Abstract

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.