Open AccessAUTOPSY FINDINGS IN TWO PATIENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Special References to Apolipoprotein B Localization and Internalization Defect of Low Density Lipoprotein
Author(s) -
Yutani Chikao,
Go Soei,
Imakita Masami,
IshibashiUeda Hatsue,
Hatanaka Kaoru,
Yamamoto Akira
Publication year - 1987
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1987.tb02270.x
Subject(s) - autopsy , apolipoprotein b , coronary arteries , internalization , medicine , lipoprotein , pathology , cardiology , cholesterol , artery , receptor
We have experienced two autopsy cases of familial hypercholesterolemia of type I la 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.