homozygous familial hypercholesterolemia
FH fetus
multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus.
Micoscopical synopsis
ascending aorta
- foam-cell transformation of many medial smooth-muscle cells
- abnormal vascularization of the inner media and intima
- intimal involvement by a typical artherosclerotic plaque
- lipid deposits in thin, elongated cells that showed some myocytic features and in foam cells that lacked such features.
mitral and aortic valves
- numerous foam cells
- mild to moderate fibrous thickening
vein,
- no lipid deposits
xanthomas
- marked lipid accumulation in histiocytic foam cells
- no lipid deposits in the endothelium of blood vessels
accelerated atherosclerosis
prominent lipid accumulation in macrophages and other stromal cells of the aortic and mitral valves, skin, tendon, and, varibly, in other extravascular sites
References
Buja LM, Kovanen PT, Bilheimer DW. Cellular pathology of homozygous familial hypercholesterolemia. Am J Pathol. 1979 Nov;97(2):327-57. PMID: 118674