2a) This is the next instalment of @cardiomet_CE‘s 10-part foundational series on #lipid_management! It is accredited for #CME/CE and intended for #physicians #physicianassociates #nurses #nursepractitioners #pharmacists. #FOAMed @MedTweetorials #cardiotwitter
— cardio-met (@cardiomet_CE) September 7, 2022
3) Let’s start with a case study. Marissa is 43y & requests a cholesterol check as her father suffered an MI in his early 50s and had high cholesterol. She has no PMH & is a non-smoker. BMI 22. BP 126/74. pic.twitter.com/tGDky4jxEk
— cardio-met (@cardiomet_CE) September 7, 2022
5a) So, what do you do next? Time for a poll!
— cardio-met (@cardiomet_CE) September 7, 2022
a) Repeat lipid profile on a fasting sample
b) Reinforce lifestyle advice and recheck lipid profile 1 year
c) Reinforce lifestyle advice & consider atorvastatin 20mg
d) Refer to lipid clinic to exclude familial hypercholesterolaemia
6) A recent global registry study (https://t.co/UkqZE0ylay) explored how #FH is detected & managed globally. The bottom line was FH is diagnosed late, individuals were significantly undertreated, and tragically they often suffered premature #ASCVD pic.twitter.com/LRyqGGRauY
— cardio-met (@cardiomet_CE) September 7, 2022
7b) but this study (https://t.co/UkqZE0ylay) suggested only 60% were on lipid-lowering therapy of which 80% were on statins but at suboptimal doses. We need to work to close this treatment gap! pic.twitter.com/SbtnKdO0ZA
— cardio-met (@cardiomet_CE) September 7, 2022
9) The authors concluded that a call to action is required to improve outcomes for people living with #FH and that earlier detection and the greater use of combination therapies are required to reduce the global burden of FH pic.twitter.com/GimA0D6H1o
— cardio-met (@cardiomet_CE) September 7, 2022
11) There are 2 types of #FH:
— cardio-met (@cardiomet_CE) September 7, 2022
👉More common: heterozygous FH (autosomal dominant). 1 copy of the defective gene is inherited.
👉The other: homozygous FH, very rare (~ 1:300000); 2 copies of the defective gene are inherited, potentially ➡️ severe CAD by mid-20s or earlier pic.twitter.com/WvFXxMwV1z
13) Heterozygous #FH is commoner than we think; in 🇬🇧 it affects up to 1:250 people. So, in a typical UK primary care practice with 10,000 patients: 30-40 individuals will have FH. It is an easily missed diagnosis! pic.twitter.com/mUSqT80tQL
— cardio-met (@cardiomet_CE) September 7, 2022
15) If untreated, #FH can lead to #CHD in >50% of ♂️ by age 50y & at least 30% of ♀️ by age 60y
— cardio-met (@cardiomet_CE) September 7, 2022
👉If treated early, individuals can expect the same life expectancy as their unaffected siblings
🫀 Many living with FH are asymptomatic therefore active case-finding is pivotal pic.twitter.com/1WE07psEz7
17) In the UK, #NICE updated their guidelines CG71 on the identification & management of #FH during 2019 and suggested systematically searching our primary care records for people with:
— cardio-met (@cardiomet_CE) September 7, 2022
🫀 TC >7.5mmol/L (290 mg/dL) in those <30y
🫀 TC >9mmol/L (348 mg/dL) in those ≥30y pic.twitter.com/xuOfvFhMzi
19a) Don’t forget about secondary causes of #hyperlipidaemia before suspecting a diagnosis of #FH or commencing lipid-lowering therapy #LLT
— cardio-met (@cardiomet_CE) September 7, 2022
These include:
🫀 Type 2 diabetes #T2D
🫀 Chronic kidney disease #CKD
🫀 #Hypothyroidism
(cont)
20a) Once individuals are identified, #NICE CG71 recommends assessing them against standard #FH diagnostic criteria
— cardio-met (@cardiomet_CE) September 7, 2022
20c) Also see 🔓https://t.co/YQfBukExeI
— cardio-met (@cardiomet_CE) September 7, 2022
Remember the absence of clinical signs does not exclude a diagnosis of #FH
22) And here’s a reminder what a #corneal #arcus looks like. Like tendon xanthomas, it is caused by LDL deposition in collagenous connective tissue pic.twitter.com/BGmmF7fmmU
— cardio-met (@cardiomet_CE) September 7, 2022
24a) So how do we manage #FH?@escardio / #EAS have made recommendations for the early treatment of people diagnosed with heterozygous FH. pic.twitter.com/nguhWtaOzZ
— cardio-met (@cardiomet_CE) September 7, 2022
24c) Remember, according to @escardio criteria all living with #FH are high-risk or very-high-risk of #CVD pic.twitter.com/zo75R9QqW1
— cardio-met (@cardiomet_CE) September 7, 2022
26) Treatment is usually initiated by a specialist with possible on-going follow-up in primary care
— cardio-met (@cardiomet_CE) September 7, 2022
As always, reinforce lifestyle advice: 🚬cessation, healthy diet & increasing physical activity 🏃♀️
So, returning to Marissa (tweets 3-4) …
27b) On examination there was no evidence of tendon #xanthomas or #corneal_arcus
— cardio-met (@cardiomet_CE) September 7, 2022
Assessing her against the #Simon_Broome criteria suggests a possible diagnosis of #FH so we should consider specialist referral for further investigation and confirmation of diagnosis
28b)
— cardio-met (@cardiomet_CE) September 7, 2022
🫀 #FH carries a high risk of premature #ASCVD; If untreated, FH can lead to #CHD in >50% ♂️ by age 50 & at least 30% ♀️ by age 60
👉Suspect FH in adults >16y with:
• TC >7.5mmol/l and/or
• Personal hx of premature CHD <60
• FH of premature CHD <60y in 1st degree relative
28d)
— cardio-met (@cardiomet_CE) September 7, 2022
🫀 People living with #FH are at high-risk or very-high-risk of #CVD & require high-intensity statins usually in combination with #ezetimibe to achieve tight #LDL_C goals. #PCSK9 inhibitors can be added for very-high-risk individuals if treatment goals are not achieved
29) And there you have it! Go to https://t.co/9ZhF9LiHZn and claim what is yours! And FOLLOW @cardiomet_ce (and @ckd_ce!) for the latest in #cardiometabolic education! I am @drkevinfernando, and I thank you for joining us!#FOAMed #cardiotwitter
— cardio-met (@cardiomet_CE) September 7, 2022