Presentations
- Cascade, opportunistic, or universal screening
- Cutaneous xanthomas
- Dyslipidaemia – elevated cholesterol and/or triglycerides
- Family history of early coronary artery disease
- Pancreatitis
Conditions
- Genetic causes of hypertriglyceridaemia
- Heterozygous familial hypercholesterolaemia
- Secondary hypercholesterolaemia due to:
- diabetes
- hypothyroidism
- liver disease
- steroid treatment
- Secondary hypertriglyceridemia due to:
- diabetes
- side effects of medication, such as asparaginase
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Conditions
- Elevated lipoprotein
- Homozygous familial hypercholesterolaemia
- Sitosterolaemia
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Incidence of familial hypercholesterolaemia and ethnic variations:
- early detection and multidisciplinary team management of severe lipid disorders
- genetics of familial hypercholesterolaemia and other inherited lipid disorders
- principles of cascade, opportunistic, and universal screening
Investigations
- Cascade screening of family members
- Interpretation of genetic results
- Referral for cardiac / vascular investigations, especially in severe forms, including cardiac echo and carotid intimal media thickness
- Screening and monitoring of lipid profiles
- Screening for additional cardiac risk factors, such as:
- hypertension
- obesity
- smoking
General management considerations
- Access local guidelines regarding lipid screening, treatment options, and treatment targets
- Cascade testing
- Genetic counselling
- Multidisciplinary team approach, including:
- cardiology
- dietitian
- genetic counsellor
- primary care physician
- Recommendations for healthy lifestyle and cardiovascular risk mitigation, such as:
- diabetes
- hypertension
- obesity
- Shared care with primary care and general paediatrics
- Tertiary team approach for severe lipid disorders, including:
- apheresis service
- cardiology
- genetics
- liver transplant team
- metabolics
Non-pharmacological interventions
- Role of dietary measures, including plant sterols and omega-3 fatty acid supplements
Pharmacological interventions
- Acute management of severe hypertriglyceridemia with pancreatitis:
- indications for use of heparin, insulin, and plasmapheresis
- Awareness of, and indications for, newer agents for severe forms:
- ANGPTL3 monoclonal Ab
- gene silencing agents
- PCSK-9 inhibitors
- Dosing, indications, and side effects of:
- cholesterol biosynthesis inhibitors (statins)
- fibrates for hypertriglyceridemia and mixed dyslipidaemias
- sterol uptake inhibitors (ezetimibe)
- use of combination therapies and risks
