We have a 63 year old man who presented to our clinic at the age of 58 with
multiple, large (i.e. 8x8x5 cm and larger) xanthomata, over his MTP joints,
elbows, knees and Achilles tendon. The lesions had developed over a 30 year
period, and the referral was instigated because they were causing
discomfort and interfering with daily activities and wearing shoes. One was
removed and histology was consistent with a xanthoma. When he was first seen
in our clinic his total cholesterol was 6.2, triglycerides 1.3 and HDL 1.5.
He did not have IHD, but has recently developed mild chest pain on exertion
and had a positive ETT in May. His father (who died from cancer aged 68) had
the same lesions, as does his brother (MI in his 40’s) and his son who is
otherwise well (in his 30’s). Serum phytosterols and cholestanol were not
raised, and his lesions continue to progress despite satisfactory response
of plasma lipids to atorvastatin. Does anyone have any suggestions as to why
he should develop xanthomata without FH, or evidence of cerebrotendinous
xanthomata or phytosterolaemia?
Thankyou in advance!
Dr Shona Twaddle
SpR in Chemical Pathology
Nottinham City Hospital
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