Gaps in the Care of Familial Hypercholesterolaemia in Australia: First Report From the National Registry

Abstract

Background Familial hypercholesterolaemia (FH) is under-diagnosed and under-treated worldwide, including Australia. National registries play a key role in identifying patients with FH, understanding gaps in care and advancing the science of FH to improve care for these patients. Methods The FH Australasia Network has established a national web-based registry to raise awareness of the condition, facilitate service planning and inform best practice and care services in Australia. We conducted a cross-sectional analysis of 1,528 FH adults enrolled in the registry from 28 lipid clinics. Results The mean age at enrolment was 53.4615.1 years, 50.5% were male and 54.3% had undergone FH genetic testing, of which 61.8% had a pathogenic FH-causing gene variant. Only 14.0% of the cohort were family members identified through cascade testing. Coronary artery disease (CAD) was reported in 28.0% of patients (age of onset 49.0610.5 years) and 64.9% had at least one modifiable cardiovascular risk factor. The mean untreated LDL-cholesterol was 7.462.5 mmol/L. 80.8% of patients were on lipid-lowering therapy with a mean treated LDL-cholesterol of 3.361.7 mmol/L. Among patients receiving lipid-lowering therapies, 25.6% achieved an LDL-cholesterol target of ,2.5 mmol/L without CAD or ,1.8 mmol/L with CAD. Conclusion Patients in the national FH registry are detected later in life, have a high burden of CAD and risk factors, and do not achieve guideline-recommended LDL-cholesterol targets. Genetic and cascade testing are under-utilised. These deficiencies in care need to be addressed as a public health priority.

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

“…A steering committee, selected from board members of the FH Australasia Registry Network [5] , appointed a writing group and invited contributions from diverse clinical specialties and health consumers [4] . The protocols followed are detailed elsewhere [4] .…”

“…[CoR Strong; LoE Moderate] Statins and other systemically absorbed cholesterol lowering drugs should be discontinued 3 months before conception, as well as during pregnancy and breastfeeding [ 1 , 3 , 7 ]. [CoR Strong; LoE Moderate] In women with homozygous FH and clinical ASCVD, use of statins and ezetimibe may be considered after the first trimester [ 1 , 5 , 36 ]. [CoR Weak; LoE Moderate] Although CACS may be useful for initial risk stratification of asymptomatic patients prior to commencing a statin, it should not be used to monitor the efficacy of therapy [ 1 , 15 , 16 , 46 ].…”

“…In women with homozygous FH and clinical ASCVD, use of statins and ezetimibe may be considered after the first trimester [ 1 , 5 , 36 ]. [CoR Weak; LoE Moderate]…”

Familial hypercholesterolemia and statins in the COVID-19 era: Mitigating the risk of ischemic stroke

“…Accordingly, we are proposing that, based on individual considerations, clinicians treating COVID-19 patients initiate/continue or even intensify statin treatment in the context of stroke prevention in FH patients and also in other patients with severe hypercholesterolemia. This recommendation is highly relevant against the background that a significant fraction of FH patients uses statins either irregularly, at too low a dose, or not at all [ [17] , [18] , [19] ]. So, clinicians need to take care that hospitalized FH patients with COVID-19 reach the treatment goals for LDL-C, which usually requires a high-efficiency combined lipid-lowering therapy that includes a high dose of a high-intensity statin.…”

Patients with familial hypercholesterolemia and COVID-19: Efficient and ongoing cholesterol lowering is paramount for the prevention of acute myocardial infarction

“…We argue that effective statin therapy is of utmost importance among FH patients to effectively lower serum LDL-C and to improve endothelial function. Unfortunately, even diagnosed FH patients are often treated with ineffective statin dosages [8] . Additionally, it has been reported that among hospitalized patients with COVID-19 statin treatment is in very many cases discontinued.…”