NAME of sponsor ? tri-partite Cardiac Networks
SERVICE SPECIFICATION
Identification and management of familial
hypercholesterolaemia
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Document Information
Document Title
Identification and management of familial hypercholesterolaemia
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Format
Comments
G:\Kirklees\SCG\SERVICE\fh\Service Specification template.doc
MS Word
Main Document
Supporting Documents
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Comments
NICE Clinical Guidance No 71 issued August 2008
Reference to consent for examination or treatment (2001)
www.dh.gov.uk
Mental Capacity Act
www.publicguardian.gov.uk
Seeking consent:working with children
Transition: getting it right for young people (2006)
www.doh.gov.uk
www.dh.gov.uk
Version History
Version
Number
1
Issue Date
Author
20 July 2009
Shirley Brook
2
28 August
2009
Shirley Brook
3
14
September
2009
30
September
Shirley Brook
4
Review/Change
Date
Reviewed By
Amendments made following sub-group
meeting held 25 August 2009 at Chapel Allerton
Hospital
Amendments made following group meeting
held 11 September 2009 at Hatfeild Hall
Shirley Brook
Wording change to page 7, para 2 (Greg
Reynolds
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Brief description of action/changes
2009
Insert Document Title (R Lund)
Minor wording amendments (G Oliver)
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Purpose of the Specification
The aim of this specification is to outline the service expectations local commissioners wish to see provided by healthcare
professionals in the identification and management of individuals and their families who are at diagnosed with
hypercholesterolaemia.
Background
Familial hypercholesterolemia (FH) is an inherited condition that:
 causes high levels of low density lipoprotein (LDL) cholesterol levels beginning at birth
 and heart attacks at an early age.
Cholesterol is a fat like substance that is found in the cells of the body and also in some foods. The body needs some cholesterol
to work properly and uses cholesterol to make hormones, vitamin D and substances that help with food digestion, however too
much cholesterol in the blood stream can build up in the wall of arteries and increase the risk of heart disease.
Symptoms of familial hypercholesterolemia
The major symptoms and signs of FH are:
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High levels of total cholesterol and LDL cholesterol
A strong family history of high levels of total and LDL cholesterol and/or early heart attack
Elevated and therapy-resistant levels of LDL in either or both parents
Xanthomas (waxy deposits of cholesterol in the skin or tendons)
Xanthelasmas (cholesterol deposits in the eyelids)
Corneal arcus (cholesterol deposit around the cornea of the eye)
If angina (chest pain) is present may be sign that heart disease is present
Individuals who have homozygous familial hypercholesterolemia develop xanthomas beneath the skin over their elbows,
knees and buttocks as well as in the tendons at a very early age, sometimes in infancy.
Heart attacks and death may occur before 30 years.
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Diagnosis
Diagnosis of familial hypercholesterolemia is based on a physical examination which may identify xanthomas and xanthelasmas
and cholesterol deposits in the eye. Laboratory testing includes blood testing of cholesterol levels and studies of heart function.
Genetic testing may be used to supplement a clinical diagnosis and also used as a primary diagnostic tool in other family members,
that is once the mutation is known, although a clinical diagnosis will also usually be made as well.
Using Simon Broome1 diagnostic criteria for index individuals (probands)
a definite clinical diagnosis of FH would be a patient presenting with:
a total cholesterol of more than 7.5 mmol/l following two measurements and after excluding secondary cause of hyperlipidaemia (eg
renal, hepatic, thyroid disease)
OR
LDL-C more than 4.9 mmol/l following two measurements and after excluding secondary cause of hyperlipidaemia (eg renal,
hepatic, thyroid disease)
AND
Tendon xanthomas affecting the patient or a first or second degree relative.
A possible clinical diagnosis of FH could be made in a patient presenting with:
a total cholesterol of more than 7.5 mmol/l following two measurements and after excluding secondary cause of hyperlipidaemia (eg
renal, hepatic, thyroid disease)
OR
LDL-C more than 4.9 mmol/l following two measurements and after excluding secondary cause of hyperlipidaemia (eg renal,
hepatic, thyroid disease)
AND a family history of premature CHD (first degree relative at <60 years of age, second degree relative at <50 years of age)
OR family history of raised cholesterol of >7.5mmol/l in a 1st or 2nd degree adult relative or >6.7 mmol/l in a 1st degree relative age
less than 16 years.
1
Marks D, Thorogood M, Neil HA, Humphries SE (2003) A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia.
Atherosclerosis 168 (1): 1-14. NICE clinical guideline 71 – Identification and management of familial hypercholesterolaemia page 42
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In both the above examples referral to a specialist clinic would be recommended.
A care pathway has been developed to aid in primary care decision making whether to refer to a Lipid Clinic (Appendix 1) insert
care pathway at end of doc
Treatment
Following a firm diagnosis, treatment for FH will typically be monitored by a lipid clinic, of which there are approx 156 in the UK, the
basic aim being to reduce LDL cholesterol. Diet and other lifestyle advice plays an important part in the management of an
individual diagnosed with FH, but it is characteristic that drug treatments are usually required.
Individuals who have homozygous FH may need more aggressive therapies to treat their significantly elevated levels of cholesterol
including periodical LDL apheresis or highly invasive surgery such as a liver transplant.
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Healthcare professionals should offer people with a clinical diagnosis of FH a DNA test to increase the certainty of their
diagnosis and to aid diagnosis among their relatives.2
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In children at risk of FH because of one affected parent, a DNA test if the family mutation is known should be carried out by
the age of 10 years or at the earliest opportunity thereafter.3
FH requires life-long management from diagnosis and it is recommended this is delivered in local Lipid Clinics or based on a clinical
decision by the patient’s general practitioner or other suitably appropriate health care professional.
Target Population
2
National Institute for Health and Clinical Excellence August 2008 NICE Clinical Guideline 71 Familial hypercholesterolaemia Identification and management
of familial hypercholesterolaemia. Page 8
3 National Institute for Health and Clinical Excellence August 2008 NICE Clinical Guideline 71 Familial hypercholesterolaemia Identification and management
of familial hypercholesterolaemia. Page 8
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The target population for the treatment of FH will be within the boundaries of the Yorkshire and the Humber Strategic Health
Authority area, however, it is recognised that in some geographical areas patients may exercise their choice and be referred/
receive their treatment in another SHA region eg north of North Yorkshire and York PCT area where boundaries merge with
Tyneside.
Patients attend Lipid Clinics for the treatment of both FH and other lipid disorders. From current information it is not possible to
identify exact numbers of existing clinic patients with a confirmed diagnosis of FH. Audit and performance monitoring (see section
Audit) will enable more precise information to be collected over time and to identify whether existing services can provide adequate
capacity based on demand.
Patients with FH will require life-long management of their condition. It is anticipated that numbers being referred to Lipid Clinics
will continue to rise in the short term (3-5 years) with an eventual plateau of known patients being identified in the longer term. An
annual review should be offered to every patient who’s condition is being maintained which may be delivered in a primary care
setting, therefore it is not anticipated that demand will outstrip capacity in the longer term.
In some instances it may be appropriate for continuity of care to be delivered by the patient’s general practitioner or other identified
health care professional.
Familial hypercholesterolaemia may be present from birth, the condition being transmitted from generation to generation in a
dominant pattern such that siblings and children of a person with FH have a 50% risk of inheriting FH.
The prevalence of heterozygous FH in the UK population is estimated to be 1 in 500 which means that approximately 110,000
people are affected. Having this condition leads to a greater than 50% risk of coronary heart disease in men by the age of 50 years
and at least 30% in women by the age of 60 years, if left untreated.
Homozygus FH is rare with an incidence of approximately one case per one million. Symptoms appear in childhood and are
associated with early death from coronary heart disease.
Based on the evidence provided by NICE (2008) precise numbers cannot be predicted, and as already identified an unknown
number of individuals will already be receiving treatment for FH by drug intervention in Lipid Clinics, therefore timely and accurate
data will be required to monitor any increases in demand for the service.
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Service Objectives
The overall goal of treatment is to lower the risk for atherosclerotic heart disease by lowering the LDL cholesterol levels in the blood
stream. Atherosclerosis is a condition in which fatty material collects along the walls of arteries.
Treatment and care should take into account patient’s individual needs and preferences. Good communication is essential,
supported by evidence-based information to allow patients to reach informed decisions about their care. Department of Health
advice on seeking consent should be followed, and families and carers should be given the opportunity to be involved in decisions
about their treatment and care. Health care professionals in lipid clinics may discuss the appropriateness of genetic testing with
the patient and any referral will be made via the lipid clinic staff. Patients and their families should be offered written advice and
information about patient support groups for people with FH.
The services objectives are:
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To ensure that protocols for referral, early intervention and support are agreed between all agencies
To ensure that an early referral to secondary care is made
To ensure that individuals diagnosed with FH have access to information about their condition
To ensure that individuals diagnosed with FH are offered a range of information eg lifestyle changes
To ensure that Index patients diagnosed with FH are offered genetic testing
To ensure that relatives of index patients diagnosed with FH are offered genetic cascade testing and/or the services of a
genetic counsellor
To ensure that individuals diagnosed with FH are consulted regarding other members of their family
To ensure that cascade testing is offered to index individuals with a clinical diagnosis of FH
To ensure that adult and paediatric healthcare teams should work jointly to provide assessment and services appropriate to
young people with FH
To ensure that services are able to meet the needs of all children and young people including estate and environment
To ensure there are appropriately trained staff available when children and young people are being seen in clinic
To ensure that arrangements are in place to ensure that specialist multi-disciplinary teams are of sufficient size and have an
appropriate skill-mix, training and support to function effectively
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To ensure that when children and young people are transferred to adult services, their continuity of care is ensured by identifying
who is the lead clinician.
To ensure that information and counselling on contraception and future pregnancy is available to women and young girls with
FH
To ensure that all people with FH are offered a regular structured review that is carried out at least annually
At all times ensure service users and their families are involved in the development of services
What outcomes will the service support?
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Early diagnosis of an individual with FH
Early detection of other family members at risk of having or developing FH
Prevention of premature death
Encourage lifestyle changes as a component of medical management and not a substitute for drug therapy
Routine follow up appointments
Improving understanding within the primary healthcare teams of the need for early referral and specific often drug-based
treatments for people whose cholesterol is significantly raised for familial reasons.
Service Delivery Expectations
The following sections highlight the service delivery expectations of local commissioners for patients identified with FH
These expectations are divided into the following distinct services:
Primary Care pre referral/assessment
Out patient services
Transfer to another service/Management/Discharge protocols
Primary Care Pre-referral/Assessment and Referral
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Key Component
Key Elements
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Pre-referral
assessment
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Point of referral
Admission to a
Lipid Clinic
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A healthcare professional will arrange for primary diagnostic testing incuding LDL-C, to take place.
Following primary diagnostic testing and using the referral criteria as a guide, a healthcare professional
will refer the patient to a specialise lipid clinic using the agreed template (Appendix 2) we need to
develop this.
A healthcare professional may wish to discuss the primary diagnostic test results with a member of the
team for advice and agree whether a referral is required
The point of referral to a lipid clinic will be from a health care professional and should include primary
care diagnostic test results and include the agreed minimum dataset..
Patient choice should enable them to identify the most appropriate clinic for them to attend from a
directory of services (Appendix 2) we need to develop this
Acceptance to a clinic will be from a health care professional based upon diagnostic test results.
Arrangements are in place to ensure that specialist multi-disciplinary teams are of sufficient size and
have an appropriate skill-mix, training and support to function effectively
Index patients diagnosed with FH will be offered a genetic test as part of the care pathway
Out patient attendance
Key Component
Key Elements
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Out patient
attendance
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Lipid clinics will be patient centric to the delivery of quality out patient care, ensuring governance
arrangements are in place and there are no risks to the patient.
Patients will at all times be involved in decisions about their health care, based on clinical evidence
provided by health care professionals.
Services will be efficient, cost effective and offer commissioners value for money
Continuity of care and monitoring of lipid levels will be in the main, in lipid clinics, until or at such time a
clinical decision is made that this can be successfully managed by the patient’s general practitioner or
other suitably identified health care professional.
Genetic testing will be discussed with the patient and/or their relatives/carers/parents and if considered
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to be appropriate based on the Genetic Referral Pathway (Appendix 3) (to be developed) Referrals will
be to a local genetic service.
Transfer to other Units Health Care Professional, Maintenance of care, Discharge protocols
Key Component
Transfer to other
units
Transfer to
Primary Care
Transition
Key Elements
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When transfer to another unit is required because of patient’s choice or lifestyle change then all
necessary information will be provided by the transferring unit, to make the transition as seamless as
possible and to avoid risks to continuity of care
 Continuity of care and monitoring of lipid levels will be in lipid clinics, until or at such time it is clinically
appropriate that this can be successfully managed by the patient’s general practitioner or other suitably
identified health care professional.
 When transferring the management of monitoring lipid levels to primary care because of patient’s
choice or lifestyle change or based on a clinical decision, then all necessary information will be provided
by the transferring unit, to make the transition as seamless as possible and to avoid risks to continuity of
care
 The decision to transfer the maintenance of care to a primary care setting will require a clear mandate
for lipid levels to be checked as a minimum annually or more frequently by the patients General
Practitioner or other identified health care professional in a primary care setting. Clear protocols should
be in place for re-referral back to a lipid by the patients General Practitioner or other identified health
care professional.
 When children and young people are transferred to adult services, their continuity of care is ensured by
identifying who is the lead clinician
 Adult and paediatric healthcare teams should work jointly to provide assessment and services
appropriate to young people with FH
Tariff
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There is scope for the patient pathway to be apportioned a tariff for out patient appointment, management of lipid levels and for
genetic testing and subsequent genetic counselling where appropriate or for the patient pathway tariff to be inclusive of the above,
recognising this tariff will reflect that not every patient will require genetic testing and/or subsequent genetic counselling.
A tariff will be developed through discussion with existing services and agreement on the most appropriate methodology of applying
a tariff.
Quality Standards
The Service Provider shall ensure they comply with the Healthcare Commissions Standards for Better Health.
As a minimum the service provider shall ensure that the following are met:
Environment and Facilities
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Lipid clinics should be well designed and have the necessary facilities and resources to meet service needs
Premises should be designed and managed so patient’s rights, privacy and dignity are respected
The clinics should provide a safe environment for staff and patients
Staffing and Training
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The number of healthcare professionals in the clinic should be sufficient to safely meet the needs of service users at all times
There are healthcare professionals with a specialist qualification in the unit at all times do we need to specify/reference what
this is
Clinic staff work effectively as a multi-disciplinary team do we need to specify what an MDT should comprise of
Staff receive ongoing education and training appropriate to their role in the clinic
Appropriate training methods are used to ensure staff training is effective
All staff receive regular supervision from a person with appropriate experience and qualifications
There is a recruitment policy to ensure vacant posts are filled quickly with well qualified and checked candidates
Access, Assessment and Transition
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Referrers and other related professionals should have ready access to information about the clinic (Appendix 2)
There is equity of access to clinics in relation to ethnic origin, social status, disability, physical health and location of residence
Care and Treatment
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Wherever possible the treatment provided should be evidence-based
Outcome measurement should be undertaken routinely using validated outcome tools (? Audit)
During initial assessment good communication is maintained with the service user and/or their family
Drugs are administered according to the relevant guidelines do we need to be specific about children and young people
Service users must be able to complain or ask questions if they are unhappy with their care and treatment and a “complaints”
procedure must be in place
Information, Consent & Confidentiality
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All service users including children, young people, their parents/carers and families should have good access to information
All service users including children, young people, their parents/carers and families should be involved in decisions about their
treatment where appropriate
All service users, including children, young people their parents/carers and families should have access to their health records
where appropriate
Personal information about service users should be kept confidential, unless this is detrimental to their care
All examination and treatment should be conducted with the appropriate consent, taking account of privacy and dignity
guidance
Rights, Safeguards and Child Protection
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Restriction of liberty of the young person must only occur within the appropriate legal framework, under the provision of the
Mental Health Act, Children Act or common law
Young people must be able to complain or ask questions if they are unhappy with their care and treatment
The Lipid Clinic must operate within the appropriate legal framework in relation to control and discipline
Practitioners should be kept well informed with up-to-date information on legal issues relating to children and young people
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The Lipid Clinic should have a policy on dealing with allegations of abuse against staff, other young people or visitors, relatives
or friends
Staff will have received the required CRB checks to enable them to work with children and young people
Practitioners will be able to evidence they have received the appropriate training relating to children and young peoples
services and that out patient clinics will be delivered in an appropriate setting for children and young people.
Audit and Policy
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All available information is used to evaluate the performance of the Lipid Clinic
Healthcare professionals and clinic staff learn from information collected on clinical risks
Health care professionals and clinic staff should be involved in clinical audit
The Lipid Clinic has a comprehensive range of policies and procedures covering the services operated within the unit
In the event of a database being developed, the Lipid Clinic will provide information to populate the database, and routinely
provide reports.
Lipid Clinics will record specific information regarding patients diagnosed with FH (do we want to develop a spreadsheet for
this using minimum dataset info)
Record Keeping and Data Collection
The service provider will comply with all reasonable requests for information and provide performance reporting information in the
manner and format agreed with service commissioners.
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Yorkshire and Humber
Primary Care Pathway
Diagnosis of Familial Hypercholesterolaemia in Children
POSSIBLE Clinical Diagnosis of FH
DEFINITE Clinical Diagnosis of
FH
Total Cholesterol > 6.7 mmol/l*
or LDL-C > 4.0 mmol /l
And
Tendon xanthomas affecting the
patient, or a first or second degree
relative
Total Cholesterol > 6.7 mmol/l*
or LDL-C > 4.0 mmol //
And
Family History of MI** at <60 years in a 1st
degree relative
or Family History of MI at <50 years in a
2nd degree relative
or
Family History of total
cholesterol>7.5mmol/l in a 1st or 2nd degree
relative
Family History of total
cholesterol>6.7mmol/l in 1stdegree relative
age< 16 years
In children at risk of FH (one affected
parent)
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LDL-C should be measured by age 10
years and repeated after puberty
If the child meets the recommendations in the flow
charts left Refer to Specialist Lipid Clinic
Management includes
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Lifestyle and risk factor advice
A full assessment will be made in the Lipid Clinic.
The lipidologist will recommend any onward
referral to cardiology or genetics as part of the
patient’s management plan.
Refer to Specialist Clinic
for confirmation of diagnosis
and initiation of cascade screening for family members
see Regional Directory of Lipid Clinics
*following two measurements and after excluding secondary cause of hyperlipidaemia
(e.g renal, hepatic, thyroid disease)
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**Myocardial Infarction
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Please note;
In asymptomatic children with heterozygous FH,
cardiology referral should not routinely be
offered
Yorkshire and Humber
Primary Care Pathway
Diagnosis of Familial Hypercholesterolaemia in Children
POSSIBLE Clinical Diagnosis of FH
DEFINITE Clinical Diagnosis of
FH
Total Cholesterol > 6.7 mmol/l*
or LDL-C > 4.0 mmol /l
And
Tendon xanthomas affecting the
patient, or a first or second degree
relative
Total Cholesterol > 6.7 mmol/l*
or LDL-C > 4.0 mmol //
And
Family History of MI** at <60 years in a 1st
degree relative
or Family History of MI at <50 years in a
2nd degree relative
or
Family History of total
cholesterol>7.5mmol/l in a 1st or 2nd degree
relative
Family History of total
cholesterol>6.7mmol/l in 1stdegree relative
age< 16 years
In children at risk of FH (one affected
parent)
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LDL-C should be measured by age 10
years and repeated after puberty
If the child meets the recommendations in the flow
charts left Refer to Specialist Lipid Clinic
Management includes

Lifestyle and risk factor advice
A full assessment will be made in the Lipid Clinic.
The lipidologist will recommend any onward
referral to cardiology or genetics as part of the
patient’s management plan.
Refer to Specialist Clinic
for confirmation of diagnosis
and initiation of cascade screening for family members
see Regional Directory of Lipid Clinics
*following two measurements and after excluding secondary cause of hyperlipidaemia
(e.g renal, hepatic, thyroid disease)
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**Myocardial Infarction
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Please note;
In asymptomatic children with heterozygous FH,
cardiology referral should not routinely be
offered