Presentations
- Dyslipidaemia:
- elevated cholesterol
- elevated triglycerides
- Elevated lipoprotein (a)
- Hypercholesterolaemia
- Hypertriglyceridemia
- Opportunistic, cascade or universal screening
- Pancreatitis with elevated triglycerides
- Premature cardiovascular disease
- Xanthomas:
Conditions
- Genetic causes of hypertriglyceridemia
- Heterozygous familial hypercholesterolaemia
- Secondary hypercholesterolaemia due to:
- diabetes
- liver disease
- steroid treatment
- Secondary hypertriglyceridemia due to:
- diabetes
- hypothyroidism
- lifestyle factors
- oncology treatment:
- side effect of medications
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
Presentations
- Pancreatitis
- Premature cardiovascular disease
Conditions
- Dysbetalipoproteinaemia
- Familial chylomicronaemia
- Homozygous familial hypercholesterolaemia
- Hypobetalipoproteinaemia and abetalipoproteinaemia
- Lipodystrophies and the cross over with monogenic diabetes
- 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 opportunistic, cascade and universal screening
Investigations
- Calculation of the Dutch Lipid Clinic Network Score
- Cascade screening of family members
- CT calcium score
- Interpretation of genetic results
- Interpretation of lipid and lipoprotein profiles
- Screening and monitoring of lipid profiles
- Screening for additional cardiac risk factors:
- 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
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 insulin, heparin and plasmapheresis
- Awareness and indications for agents:
- ANGPTL3 monoclonal Ab
- apheresis
- gene silencing agents,
- Indications, dosing and side effects of:
- cholesterol biosynthesis inhibitors (statins)
- fibrates for hypertriglyceridemia
- mixed dyslipidaemias
- monoclonal antibody PCSK-9 inhibitors
- sterol uptake inhibitors (ezetimibe)
- use of combination therapies and risks
