Lipid disorders Flashcards
What is familial hypercholesterolaemia (FH)
Familial hypercholesterolaemia (FH) is an autosomal dominant condition
results in high levels of LDL-cholesterol which, if untreated, may cause early cardiovascular disease
Mutations in FH
FH is caused by mutations in the gene which encodes the LDL-receptor protein.
Diagnosis of FH
a total cholesterol level greater than 7.5 mmol/l and/or
a personal or family history of premature coronary heart disease (an event before 60 years in an index individual or first-degree relative)
Clinical criteria for FH diagnosis
Simon Broome criteria
Mx of FH
Referral to specialist
High-dose statins 1st line
Screening of first-degree relatives
In which groups should QRISK2 not be used
type 1 diabetics
patients with an estimated glomerular filtration rate (eGFR) less than 60 ml/min and/or albuminuria
patients with a history of familial hyperlipidaemia
In which groups might QRISK2 underestimate CVD risk
People treated for HIV
Mental health history
Meds such as antipsychotics, steroids etc
autoimmune disorders/lupus
NICE advice regarding statin use in t1dm
atorvastatin 20 mg should be offered if type 1 diabetics who are:
older than 40 years, or
have had diabetes for more than 10 years or
have established nephropathy or
have other CVD risk factors
Lifestyle modifications in hyperlipidaemia
Cardioprotective diet Physical activity Weight management Alcohol intake control Smoking cessation
What are tendon xanthomata
Tendon xanthomata are hard, non-tender, nodular enlargements of tendons most commonly found on the dorsum (knuckles) of the hands and in the Achilles tendons
What do tendon xanthomata indicate
They are highly suggestive of FH, but their absence does not exclude FH.
Causes of secondary hypercholesterolaemia
Hypothyroidism Cholestatic liver disease Nephrotic syndrome Cushing's Anorexia nervosa
Meds which can cause hypercholesterolaemia
Androgens
Ciclosporin
Which conditions usually cause hypercholesterolaemia and hypertriglyceridaemia usually
DM Pregnancy CKD end stage Monoclonal gammopathy Excess alcohol HIV
What tests should be performed before starting lipid-modification treatment
Creatine kinase LFTs Renal function HbA1c TSH
