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Pathology of the Spleen
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
The kidney, the spleen, and to a lesser extent the bone marrow and peripheral blood are affected. The spleen is enlarged in many cases, and sea-blue histiocytosis is a common finding (2). Histologically, there are features found in storage disease: red pulp expansion with cordal accumulation of foamy histiocytes and sea-blue histiocytes. Sea-blue histiocytes are phagocytic histiocytes distended with phospholipid-rich granules and inclusions that have high affinity for the blue dyes of Romanowsky stains (see Fig. 5). In the kidney, foam cells are present and lipid is deposited in subendothelial spaces, mesangium, and glomerular basement membrane under the epithelium as in membranous glomerulonephritis; the latter finding is associated with nephrotic syndrome.
Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia
Published in Expert Review of Molecular Diagnostics, 2021
Shirin Ibrahim, Joep C. Defesche, John J.P. Kastelein
It is widely acknowledged that mutations in other genes involved in lipoprotein metabolism may be present in FH patients who do not have a pathogenic variant in LDLR, APOB, or PCSK9. FH-like phenotypes have, for example, been seen in families with rare heterozygous variants in APOE [55]. APOE is a multifunctional glycosylated protein that is a key component of all lipoproteins, especially triglyceride-rich lipoproteins, such as chylomicrons and chylomicron remnants, very low-density lipoproteins (VLDL) and intermediate density lipoproteins (ILD). APOE is involved in the catabolism of these lipoproteins through its interaction with receptors belonging to the LDLR superfamily. Three common polymorphisms have been recognized in the APOE gene: apoE2, apoE3 and apoE4. Homozygosity for the E2 allele can underlie type 3 hyperlipoproteinemia (dysbetalipoproteinemia). In a few individuals, the APOE p.Leu167del gene mutation causes a rare autosomal-dominant hypercholesterolemia phenotype [55]. This APOE mutation is also associated with other clinical phenotypes, such as combined hyperlipidemia and sea-blue histiocytosis.