This is a question for lipid bores:
I've just seen a 28yr old male with a total
cholesterol of 12 mmol/L, xanthelasma and, probably crucially, a single large
tendon xanthoma on his left ring finger.
The trouble is that this man has already had both
his parents and all his 3 sibs lipids checked and they were unequivocally
normal. He has 4 young and untested children.
Assuming his parentage is not in question, I must
admit to having no real knowledge of spontaneous mutations causing FH. Ha anyone
else come across this?
Eric
Dr. Eric S. Kilpatrick
Consultant in Chemical
Pathology
Hull Royal Infirmary
Anlaby Rd
Hull HU3 2JZ
Tel:
01482-607708
Fax: 01482-607752
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