The web site logo

James. I have a small amount of experience with the test offered by Athena Diagnostics. The test as you know offers little clinical utility to the diagnosis of FH, however, I have used it to help patients guide treatment and screening decisions regarding their family members. It is expensive, and does not screen for all possible mutations, so negative results are not that useful. What companies have you been using??

We do this fairly routinely for LDLR, apoB exon 27 and PCSK-9 exon 7 if they have raised carotid IMT (>75th centile). The main clinical use is in patients with strong family histories and rather lower LDL-C levels where another relative has gross hypercholesterolaemia (> 300mg/dl) and/or CHD. We have picked up a fair few patients with TC 240 mg/dl; LDL 160mg/dl who did not at first appear to be FH but actually were. As a result of positive DNA tests we have then gone on to treat them more aggressively and to screen and treat the families.