title: Autopsy findings in two patients with homozygous familial hypercholesterolemia. Special references to apolipoprotein B localization and internalization defect of low density lipoprotein.
abstract: We have experienced two autopsy cases of familial hypercholesterolemia of type IIa homozygote, one was a 21-year-old female with a defect in the internalization of low density lipoprotein which is thought to be the first autopsy report in the world, and the other was a 31-year-old male with a receptor negative for low density lipoprotein. Autopsy findings, in addition to marked skin xanthomatosis, disclosed reversed distribution of the aortic atherosclerosis, diffuse atherosclerotic narrowing of coronary arteries which led to myocardial necrosis, xanthomatous aortic and mitral valve, and much less severity of cerebral arteries rather than that of aorto-coronary atherosclerosis. We have examined the apolipoprotein B accumulation on these aortas, coronary arteries, and cardiac valves, which showed better correlation between apolipoprotein B deposit areas and preferential accumulation of Alcian blue positive areas suggested to contain sulfate glycosaminoglycan, and documented very rare localization of renal and osseous xanthomas in a patient with internalization defect of low density lipoprotein.
mesh_terms: D000328:Adult; D001055:Apolipoproteins B / Q000378:metabolism*; D001161:Arteriosclerosis / Q000473:pathology; D001344:Autopsy; D005260:Female; D006351:Heart Valves / Q000473:pathology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000378:metabolism* / Q000473:pathology; D007124:Immunoenzyme Techniques; D008077:Lipoproteins, LDL / Q000378:metabolism*; D008297:Male; D012867:Skin / Q000473:pathology; D014972:Xanthogranuloma, Juvenile / Q000473:pathology
chemical_list: D001055:Apolipoproteins B; D008077:Lipoproteins, LDL