Endocrine Abstracts

Patients with Familial Hypercholesterolaemia (FH) have premature Cardiovascular disease and have a standardised mortality ratio nine times greater than normal. FH must therefore be correctly diagnosed and treated aggressively. Referral for FH is based on fulfilling the Simon Broome’s (SB) Criteria. We aimed to evaluate practice at Queen Alexandra Hospital with regards to referral for FH genetic mutation. We set out to see whether SB’s criteria were being fulfilled when patients were referred over a 2-year period in 2014 and 2015. As a secondary endpoint, we aimed to look for any obvious differentiators between the two outcome groups. In total, 80 patients were identified for the audit. Out of those, 61 tested negative for FH and 19 patients tested positive for FH. Clinical information for audit was available for 59 patients tested negative and for 18 patients tested positive. Overall, we found that 71 patients out of a total of 77 did fulfill the SB’s Criteria. 92% did meet the SB criteria for total cholesterol. We found that mostly there was no significant difference between the 2 outcome groups. The biggest differentiator was having a family history of MI in first degree relative below the age of 60. 46% of those tested positive had such a family history compared to 30% in those tested negative. Other criteria used for referral were Xanthelasma and other family history of MI. 19 out of 59 of those tested negative had other family history of CVD not in-keeping with SB, with 4 having this as the only referral criterion alongside high cholesterol. In conclusion, SB criteria were met in 92% of cases. The biggest factor with higher predictive value for a positive genetic test for FH was a family history of MI in first degree relative below the age of 60.