抄録
An autopsy finding of 21-year-old female with homozygous familial hypercholesterolemia type IIa was studied. There were numerous tuberous xanthomas on eyelid, elbow and knee joints, Achilles tendon and buttock. Other than cutaneous xanthomas, they were observed on aortic valve cusp, mitral valve leaflet associated with calcification, chordae tendinea, renal papilla and bone marrow. Atherosclerosis of ascending aorta just above aortic valve was so severe that the lumen became almost stenotic. The postoperative state of replacement with valved conduit was observed. Atherosclerosis of common carotid artery was as severe as that of ascending aorta. Left and right coronary arteries near orifice was stenotic over 90% by atherosclerotic plaque. Moreover broad-wided fresh myocardial infarction of antero-septal wall of left ventricle was found. Grade of intensity of atherosclerosis were as follows; ascending aorta, common carotid artery, coronary artery, thoracic aorta and abdominal aorta. This order was speculated to be the differential point from common atherosclerosis usually seen in adult age.
Biochemical investigations on tissue culture of skin fibroblast from this patient proved that hypercholesterolemia of this case might be caused by some defect in internalization of LDL (low density lipoprotein) of skin fibroblast, nevertheless the value of LDL receptor activity of fibroblast was normal level.
This case was so rare that we could find only the other one case in the world.
