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Essential Familial Hypercholesterolemia with Xanthomatosis. Presented by Dr. Herbert Rattner, Samuel M. Bluefarb, and (by invitation) Dr. Howard S. Yaffee.
Dr. Howard S. Yaffee (by invitation): This patient is suffering from hypercholesterolemic xanthomatosis with xanthoma tuberosa and xanthoma tendinosa. In this entity the serum is usually clear rather than milky or turbid, although it is not commonly appreciated that these findings can occur also in primary familial hyperlipemia in which there is a turbid serum. In hypercholesterolemic xanthomatosis, although the serum is clear and the neutral fats not appreciably elevated, there is elevation of the serum phospholipids and serum cholesterol. It is of some importance to distinguish between these groups, since the cautious use of intravenous and intramuscular depot heparin may result in improvement in those cases of primary hyperlipemic xanthomatosis. Since the cardiac lesions which are sometimes associated with this condition may also improve,
Brunsting LA, Bluefarb SM. CHICAGO DERMATOLOGICAL SOCIETY. AMA Arch Derm. 1957;75(2):290–295. doi:10.1001/archderm.1957.01550140134030