Familial hypercholesterolaemia (FH) has a relatively high prevalence in a regional population of patients presenting with ACS, a Victorian study has found.
The findings from a Geelong study reinforce the importance of considering FH as a possibility, particularly in patients with significantly elevated or difficult to control lipids.
The study enrolled 180 consecutive patients presenting to the CCU at the University Hospital Geelong during six months in 2017-2018. Most were male, aged 61 years and presenting with NSTEMI (46%) and STEMI (44%).
A total of 11 patients (6.1%) were classified as having phenotypic FH according to the Dutch Lipid Clinic Network Criteria (DLCNC).
“When considering patients aged 60 and younger, a subgroup that selects for premature coronary disease, this figure rises to 11.0%,” the study authors said.
Patients with the phenotypic FH cohort were younger (53.1 v 62.0 years, p=0.011); and more likely to have documented ischaemic heart disease (63.6% v 20.7%, p=0.001) compared to the non-phenotypic FH patients.
“Phenotypic FH patients also had higher levels of total cholesterol, corrected LDL and triglycerides, but no statistically significant difference in HDL levels compared with non-FH counterparts.”
FH patients had a higher rate of statin (91% v 33%) and ezetimibe (18% v 2%) use but fibrate use was not significantly different than the non-FH patients.
There was no significant difference in rates of hypertension, hyperlipidaemia, diabetes, peripheral vascular disease, stroke or current smoking between the two groups.
The investigators said in Heart, Lung and Circulation that the prevalence of FH in their under-60 year-olds was consistent with other data from WA (14.3%) and a European study (15.4%).
“Given these findings, cascade screening takes on a greater significance for early detection and management of FH cases,” they said. “This is the most cost effective approach for the identification of new FH cases.”
They said current Australian recommendations suggest patients with phenotypic FH should be referred to a specialist clinic.