Berkshire West FH Information Pack
Familial Hypercholesterolaemia (FH) cascade testing patient
pathway in Berkshire West
Patient visits GP –
routine blood test
indicating high lipids.
Patient already on
statins. Calculate pre LDL
level as per table in
pathology handbook via
Webpath
Concern about
FH based on
family history
Check family history for early death from
CVD and perform fasting lipid profile.
If LDL cholesterol > 5.5 mmol/l and triglyceride < 2.0
mmol/l and preferably there is a family history of MI
before age of 50 in 2nd degree relative or before age
of 60 in 1st degree relative
If triglyceride ≥ 2.0 mmol/l treat as usual with
statin. Give lifestyle advice and refer to weight
management and physical activity services as
appropriate
GP appointment required
GP Actions: GP and patient discuss FH. Give lifestyle advice and refer to weight management and
physical activity services as appropriate. Inform patient they are being referred to Lipidologist and give
patient information leaflet (appendix 5). Complete virtual clinic proforma available on Choose and Book
to refer to virtual lipid clinic. Commence /continue to treat with statin as per protocol (appendix 3/4)
Lipidologist will decide on genetic testing based on information provided in pro- forma.
Decision not to test: Lipidologist will write to GP with further advice.
Decision to test: Lipidologist writes to patient, enclosing blood test form advising patient to go their GP practice
to have the blood test done. Informative letter sent to GP
If test positive: Informative letter sent to GP. Lipidologist
If test negative
will write to patient to communicate positive result and
refers patient to FH co-ordinator who will start cascade
testing for family members
.
Lipidologist will write to inform patient and
GP of result and treatment recommendations.
 Below this point, pathway to be mainly actioned by Lipidologist
& FH Co-ordinator if patient tests positive 
LDL-C Correction Factor Table for patients on cholesterol
lowering medication
If untreated LDL-C levels are unobtainable, then the following table
can be used to estimate untreated values. To achieve this, multiply
the treated LDL-C value by the appropriate correction factor.
Statin / dose (mg)
Correction Factor
Ezetimibe
10
Pravastatin
1.2
10
20
40
1.2
1.3
1.5
Pravastatin + Ezetimibe
10 + 10
20 + 10
40 + 10
1.5
1.6
1.7
Simvastatin
10
20
40
80
1.4
1.6
1.7
1.9
Simvastatin + Ezetemibe
10 + 10
20 + 10
40 + 10
80 + 10
1.9
2.0
2.3
2.4
Atorvastatin
10
20
40
80
1.6
1.8
2
2.2
Atorvastatin + Ezetemibe
10 + 10
20 + 10
40 + 10
80 + 10
2
2.2
2.2
2.5
Rosuvastatin
5
10
20
40
1.8
1.9
2.1
2.4
Rosuvastatin + Ezetimibe
10 + 10
20 + 10
40 + 10
2.5
2.7
3.3
Treatment with Atorvastatin
For patients with Familial Hypercholesterolaemia, aim for more than 50% LDL-cholesterol
reduction from baseline. Ideally, LDL-cholesterol should be <2.5 mmol/L
In general, 40 mg od or higher doses of Atorvastatin will be needed to reduce LDL-cholesterol to
target but note that some patients may develop myalgia and may need a different statin. Should
this be the case, we suggest that rosuvastatin (starting with a dose of 5 mg od) is tried first as this
statin appears to be better tolerated than simvastatin. Pravastatin is a very weak statin and should
only be tried if other statins cause side-effects.
Start with Atorvastatin 40 mg od.
After 8 weeks, repeat fasting lipid profile. If LDL-cholesterol, has not achieved 50% reduction from
baseline, double the dose of atorvastatin to 80 mg od. If using rosuvastatin, double the dose too.
Suggest measure ALT at this stage to rule out liver damage.
Repeat fasting lipid profile 8 weeks later. If Atorvastatin 80 mg od has not lowered LDL-cholesterol
to target, add ezetimibe 10 mg.
An alternative is to use rosuvastatin at 40 mg od +/- ezetimibe.
Other drugs that can be used in combination with statins to achieve LDL-cholesterol target are:
Fibrates: suggest use fenofibrate 200 mg od. Be cautious when combining atorvastatin 80
mg od and fenofibrate 267 mg od due to relatively high risk of myalgia/myositis (this is due
to prolonged half-life of atorvastatin).
Weight and physical activity
interventions
Tiers of weight
management
Tier 1 (BMI 25 – 29.5)
Walk-in4health
BMI/Referral
pathway/criteria
Name of the
service/provider
Venue/costs/booking
BMI 25 onwards
Flexible for high risk
groups like Asians &
African Caribbean groups
Weight Management
Team, Public Health,
West Berkshire Council
Market Street
Newbury
RG14 5LD
Reading walk-in centre, Broad Street
Mall, Reading –FREE
Drop-in service, selfreferral; can be referred
by a professional as well
Eat4health
BMI 25 onwards
Flexible for high risk
groups like Asians &
African Caribbean groups
Self-referral
Referral through GP/HCP
for those with comorbidities/risk factors
Healthy lifestyle
information
Health walks, lifestyle
interventions (varied)
Monday 10.30-12.00
& Thursday 11am-12.30
Men Only £3.90:
Friday: 6.30pm-8pm)
Weight Management
Team, Public Health,
West Berkshire Council
Market Street
Newbury
RG14 5LD
Leisure
centres/community
venues/ GP surgeries
Reading Borough
Council
Bookings:
mbenford@westberks.gov.uk
01635 503410
Runs across Reading (7), West
Berkshire (6) and Wokingham (3) in a
total of 16 venues. It has been part of
the NICE call for evidence and proven
successful since the past 3-4 years
Cost per course: £3.75
FREE vouchers available for people
on benefits and low income
Bookings:
mbenford@westberks.gov.uk
01635 503410
Reading

From GP desktop
http://nww.berkshirewest
pct.nhs.uk/page.asp?fldA
rea=5&fldMenu=16&fld
SubMenu=0&fldKey=16
36

Reading Lifestyle
Interventions
Sport Reading Information
Pack. Contact Sport Reading
on 0118 9015713 or visit
their website at
www.sportreading.co.uk
West Berkshire
West Berkshire council


West Berkshire Lifestyle
Interventions
Activity for Health Scheme
Contact 01635 31199
Wokingham
Wokingham council
 Wokingham Lifestyle
Interventions
 Wokingham Borough Council’s
Health and Physical Activity
Initiatives.
Active Wokingham’s GP Exercise
Referral Scheme and referral
criteria
Wokingham Contact 0118
9746264
Tier 2(BMI => 30-35)
Eat4health
BMI 25 onwards
(Flexible for high risk
groups like Asians &
African Caribbean
groups)
Weight Management
team, Public Health,
West Berkshire Council
Market Street
Newbury
Runs across Reading (7), West
Berkshire (6) and Wokingham (3) in a
total of 16 venues. It has been part of
the NICE call for evidence and proven
successful since the past 3-4 years
Patient Information leaflet
Familial Hypercholesterolaemia
Familial hypercholesterolaemia is an inherited condition, in which the level of low-density
lipoprotein (LDL) cholesterol in the blood is higher than normal from birth. The condition may
be discovered if you have a routine health check. Or, you may notice some of the features
such as fatty lumps on the skin or around the eyes. Treatment includes living healthily and
taking medicines to keep the cholesterol level down.
What is familial hypercholesterolaemia?
Familial hypercholesterolaemia is a term applied to an inherited condition in which low-density
(LDL) cholesterol (often referred to as bad cholesterol) is at a higher than normal level in the blood.
See separate leaflet called 'Cholesterol' for more information about cholesterol and the different
types of cholesterol.
What causes familial hypercholesterolaemia?
Familial hypercholesterolaemia is caused by a defect in a gene which controls the way cholesterol
is handled in the body. As a result of the defect, LDL cholesterol is not broken down properly and
builds up in the bloodstream. In most cases the defective gene is inherited from one parent
(heterozygous inheritance).
If you inherit it from both parents (homozygous inheritance), the condition is more severe.
Heterozygous familial hypercholesterolaemia affects about 1 in 500 people. The homozygous
condition is rare.
What are the features of familial hypercholesterolaemia
The most important feature is the development of heart disease at a young age. This is caused by
plaques of atheroma developing within the walls of the coronary (heart) arteries (see below). This
can lead to a heart attack (myocardial infarction) as a young adult.
You might also notice: Xanthomas - fatty cholesterol-rich deposits in the skin, usually found around
the elbows, knees, buttocks and tendons. Xanthelasmas - fatty deposits in the eyelids. Arcus
senilis - a white ring around the cornea (the coloured part of the eye). Obesity.
What are atheroma and cardiovascular diseases?
Patches of atheroma are like small fatty lumps that develop within the inside lining of arteries
(blood vessels). Atheroma is also known as atherosclerosis and hardening of the arteries. Patches
of atheroma are often called plaques of atheroma. A main risk factor for developing atheroma is a
high blood cholesterol level. Over months or years patches of atheroma can become larger and
thicker. So, in time, a patch of atheroma can make an artery narrower. This can reduce the blood
flow through the artery. For example, narrowing of the coronary (heart) arteries with atheroma is
the cause of angina. Sometimes a blood clot (thrombosis) forms over a patch of atheroma and
completely blocks the blood flow. Depending on the artery affected, this can cause a heart attack,
a stroke, or other serious problems.
Cardiovascular diseases are diseases of the heart muscle or blood vessels. When doctors say
cardiovascular disease they usually mean diseases of the heart or blood vessels that are caused
by atheroma.
In summary, cardiovascular diseases that can be caused by atheroma include: angina, heart
attack, stroke, transient ischaemic attack (TIA, or mini-stroke), and peripheral vascular disease. In
the UK, cardiovascular diseases are a major cause of poor health, and the most common cause of
death.
How is familial hypercholesterolaemia diagnosed?
You may be diagnosed by chance if you go for a health screening check or you may notice fatty
deposits on the skin or around the eyes. Another member of your family may be diagnosed with
familial hypercholesterolaemia or have a heart attack before the age of 50, and you may be
advised to have a check yourself. You will be advised to have a blood test to check your
cholesterol. Familial hypercholesterolaemia is suspected in adults if the total cholesterol is 7.5
mmol/L or greater, or the LDL cholesterol is 4.9 mmol/L or greater. In children (between the ages
of 10 and 15) the levels are 6.7 mmol/L and 4.0 mmol/L respectively.
What are the aims of treatment?
You are unlikely to have any symptoms from the heterozygous (less severe) form of familial
hypercholesterolaemia as a child or young adult. However, you should be treated to stop
symptoms and complications from developing when you are older - the most important of which is
heart disease that may develop at an earlier age than usual.
What are the treatment options for familial hypercholesterolaemia?
Being a genetic disorder, familial hypercholesterolaemia is not caused by an unhealthy lifestyle.
However, keeping yourself in the best physical condition will help to prevent future problems.
Things you can do to help yourself include:
Eating healthily - you will almost certainly be referred to a dietician to help you with this, even if you
are not overweight.
 Getting a reasonable amount of exercise.
 Avoiding smoking.
 Maintaining a normal weight.
You will be offered medication to help bring your cholesterol level down. The usual medicine to
start with is a statin. The most common statin used is called simvastatin. If the level does not come
down, another medicine called ezetimibe is sometimes added.
Affected children usually start statin medication in late childhood or early adolescence. Some
children may need apheresis (a treatment which filters LDL cholesterol out of the blood). This is
offered to those who have the greatest risk of developing problems. In particular, those with the
rare homozygous form of familial hypercholesterolaemia.
Your GP may want to discuss referring you to a specialist. A specialist can advise about your
treatment and arrange the testing of close members of your family.
What is the outlook (prognosis)?
The outlook for people with heterozygous familial hypercholesterolaemia is usually good if you
maintain a healthy lifestyle, have regular checks and take your medication without fail. The most
significant complication is heart disease or another cardiovascular disease that may develop at a
younger age than usual. The outlook for those with the more severe (homozygous) form of the
condition is less good.