Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Abstract

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under‐pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non‐cholesterol risk factors and appropriate use of low‐density lipoprotein (LDL)‐cholesterol‐lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision‐making with patients and families. New government‐funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH.

From the patient to the population: Use of genomics for population screening

“…Reported attitudes and views of population genomic screening at the provider level are scarce. Many international studies report that non-genetics specialist healthcare providers ( Batra et al, 2002 ; Carroll et al, 2008 ; Menzin et al, 2010 ; Klitzman et al, 2013 ; Hauser et al, 2018 ) feel ill-equipped to discuss the benefits, limitations, and health implications of genetic testing for HBOC, LS ( Hamilton et al, 2017 ; Laforest et al, 2019 ), and FH ( Haga et al, 2019 ; Pang et al, 2020 ; Watts et al, 2021 ). Additional reported barriers to population genomic screening include implementation costs, misinterpretation of results, and the potential for increased patient anxiety ( Shkedi-Rafid et al, 2013 ; De Simone et al, 2021 ).…”

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol

“…The proband, or first detected FH case in a family, is referred to as the ‘index’ case. Parents, siblings and children of an index case have a 50% chance of having the condition 11. Genetic testing of first-degree and second-degree relatives of confirmed index cases is referred to as ‘cascade’ testing.…”

“…Genetic testing allows for a more accurate diagnosis and can open pathways for people to access more suitable treatments, such as proprotein convertase subtilisin/kexin type 9 inhibitors, especially for those that have statin intolerance 11. In 2020, genetic testing for FH was added to the Medicare Benefits Schedule (MBS), which is a list of services subsidised by the Australian government under Medicare, the country’s universal health insurance scheme.…”