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Audit on Diagnosis and Management of Familial Hyperlipidaemia in primary care

Audit on Diagnosis and Management of Familial Hyperlipidaemia in primary care. Brig Royd Surgery January 2012 By Dr Rukhsana Hussain. Content. Background Aims of audit Audit criteria Methodology Results Discussion of results Recommendations References. Background.

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Audit on Diagnosis and Management of Familial Hyperlipidaemia in primary care

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  1. Audit on Diagnosis and Management of Familial Hyperlipidaemia in primary care Brig Royd Surgery January 2012 By Dr Rukhsana Hussain

  2. Content • Background • Aims of audit • Audit criteria • Methodology • Results • Discussion of results • Recommendations • References

  3. Background • Familial Hypercholesterolaemia (FH) is a genetic condition caused by gene mutations in pathway that clears LDL from the bloodstream • This is present from birth and may lead to early atherosclerosis and CHD. • Autosomal dominant inheritance

  4. Prevalence 1 in 500 (heterozygous FH) • CHD mortality rate > 10 x general population • High risk premature CHD – over 50% risk of CHD in men by age 50 and at least 30% risk in women by age 60 years • Seriously underdiagnosed – 1 in 6 patients known to NHS and often late diagnosis

  5. Important to identify those with FH or possible FH so families can be tested to identify those who will benefit from early treatment • Early treatment leads to near normal life expectancy

  6. NICE Guidance • Consider FH in all adults with total cholesterol greater than 7.5 mmol/l • Exclude secondary causes before considering FH • Use Simon Broome Criteria to make diagnosis of definite or possible FH • CVD risk estimation tools should not be used

  7. NICE Guidance • All patients with definite or possible FH should be offered referral to specialist lipid clinic to: • CONFIRM diagnosis • Initiate CASCADE testing • Treat

  8. Secondary causes hypercholesterolaemia • Hypercholesterolaemia (without hypertriglyceridaemia): • Hypothyroidism • Cholestatic liver disease (such as primary biliary cirrhosis). • Nephrotic syndrome. • Cushing's syndrome. • Drugs: • Androgens. • Ciclosporin. • Anti-retrovirals (protease inhibitors). • Anorexia nervosa.

  9. Secondary causes hypercholesterolaemia • Hypercholesterolaemia (usually with hypertriglyceridaemia) : • Diabetes mellitus or obesity • Pregnancy. • Renal dialysis or advanced renal failure. • Monoclonal gammopathy. • Excess alcohol consumption. • HIV infection. • Drugs: • Thiazide diuretics. • Glucocorticoids. • Retinoic acid derivatives. • Beta-blockers. • Anti-retrovirals

  10. Simon Broome Criteria • Diagnose DEFINITE FH in adult with : Total cholesterol >7.5 and LDL-C > 4.9 AND tendon xanthomata or evidence of these in 1st or 2nd degree relative OR An identified genetic mutation for FH

  11. Simon Broome Criteria • Diagnose POSSIBLE FH in adult with: Total cholesterol > 7.5 and LDL-C > 4.9 and at least one of the following : 1) Family history premature CHD i.e. MI aged < 60yrs in 1st deg relative or < 50yrs in 2nd deg relative 2) Family history raised total cholesterol in 1st or 2nd deg relative (> 7.5 in adult OR > 6.7 in child)

  12. Aims of Audit • To identify if we are using the Simon Broome Criteria appropriately to diagnose and manage possible FH as per NICE guidelines • To highlight any areas needing improvement • To make interventions and recommendations to allow us to follow best practice and save lives! • To re-audit in 6 months

  13. Audit criteria • All adult patients with cholesterol > 7.5mmol/l (without a secondary cause) should be screened for possible Familial Hyperlipidaemia using the Simon Broome Criteria • All patients with definite or possible FH should be referred to a specialist lipid clinic

  14. Methodology • SystemOne search for all patients with most recent serum cholesterol of 7.5 mmol/l or more • Search done on 22/12/2011 • 63 patients in total on initial search • Exclusion criteria applied

  15. Methodology • Exclusions • under 16s • Men aged > 55yr and women > 65yr based on NICE guideline definition premature CHD (as per team consensus) • Palliative care patients • Known secondary causes 27 patients excluded based on age

  16. Methodology • Exclusions - 2 patients due to known nephrotic syndrome - 1 patient with alcoholic liver disease - 1 patient had MI – on secondary prevention - 1 patient excluded due to most recent chol <7.5 Total number remaining patients for audit = 31

  17. Data demographics • 20 Female patients • 11 Male patients • Age range from 31 to 65yrs • Average age 54.5yrs • 9 out of 31 patients under 50 yrs age ( ~30%)

  18. Results • 7 out of 31 patients had assessment using Simon Broome criteria (23% of patients only!) • 2 patients referred to lipid clinic • 1 diagnosed with mixed hyperlipidaemia (unlikely familial) • 1 patient with familial lipoprotein lipase deficiency

  19. Results • 6 patients had family history premature CHD AND raised cholesterol fulfilling Simon Broome Criteria BUT not assessed using the criteria .... ? MISSED DIAGNOSES?

  20. Discussion of results • Possible reasons for poor results of audit include: 1) Poor knowledge of Simon Broome Criteria and NICE guidelines 2) Old results – some dating back to before the NICE guidelines (i.e. Before 2008) - oldest 1992! 3) 26 % patients lost to follow up (8 out of 31)

  21. Discussion of results 5) 19 % incorrect use of Qrisk or CVD risk tools (6 out of 31) 6) 48 % Hyperlipidaemia or hypercholesterolaemia NOT coded as PROBLEM - missed opportunities for follow up (15 out of 31)

  22. Recommendations • Educational reminder re the NICE guidelines and Simon Broome criteria for all clinicians • To produce a template on SystemOne with Simon Broome criteria to act as a prompt and reminder • Promote hyperlipidaemia to a problem in all patients included in this audit and any new presentations • Invite relevant patients from audit for reassessment

  23. Plan • To create template letters to send to patients and protocol for HCAs • All patients with blood results > 2 yrs ago to be sent letter to attend for repeat blood tests and then follow up with GP - bloods to include fasting lipids, blood sugar, electrolytes, TFT, LFT - check BMI and BP for overall CV risk assessment

  24. Plan • If blood test < 2yrs ago then letter to patient to see GP for assessment according to the NICE guidelines • Re-audit in 6 months when hopefully we will do better!

  25. Key points • We are not applying the Simon Broome Criteria as we should • We are not identifying possible cases of Familial Hyperlipidaemia • Applying the criteria would help us save lives!

  26. References • NICE guidelines - Familial Hypercholesterolaemia (Aug 2008) http://www.nice.org.uk/nicemedia/live/12048/41674/41674.pdf • NHS Clinical Knowledge Summaries • British Heart Foundation Factfile

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