Inherited lipemic splenomegaly and the spectrum of apolipoprotein E p.Leu167del mutation phenotypic variation

• Published in: Journal of clinical lipidology Vol. 7; no. 6; pp. 566 - 572
• Main Authors: Okorodudu, Daniel E., MD, Crowley, Matthew J., MD, Sebastian, Siby, PhD, Rowell, Jennifer V., MD, Guyton, John R., MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2013
• Subjects: APOE p.Leu167del; Apolipoprotein E; Apolipoproteins E - genetics; Apolipoproteins E - metabolism; Cardiovascular; Dyslipidemias - complications; Dyslipidemias - genetics; Dyslipidemias - pathology; Familial splenomegaly; Gene Deletion; Genotype; Humans; Hyperlipoproteinemias; Hypertriglyceridemia; Splenomegaly; Splenomegaly - etiology; Splenomegaly - genetics; Splenomegaly - pathology; Hyperlipoproteinemias; Splenomegaly; Familial splenomegaly; Apolipoprotein E; Hypertriglyceridemia; APOE p.Leu167del

Objective We review disorders associated with splenomegaly and dyslipidemia with an emphasis on the APOE p.Leu167del mutation. Recent studies suggest that this rare mutation may present more often without splenomegaly in patients with familial combined hyperlipidemia or autosomal dominant hyperchole...