4. Diagnosis of Familial Hypercholesterolaemia
Executive Summary
This section contains the following information:
4.1 Introduction
4.1.1 Summary of the process
4.2 Making an initial diagnosis
4.3 Clinical Diagnosis
4.3.1 Simon Broome criteria
4.3.2 Clinical signs of FH
4.3.3 Patient care pathway for diagnosis
4.4 Informing patients of the diagnosis
4..4.1 Referral to Lipid Clinics
4.4.2 Lipid Clinics in your area
4.5 DNA testing
4.5.1 Procedures in DNA testing
4.5.2 Consent from patients
4.5.3 Referral for DNA testing
4.6 Diagnosing FH in children
4.6.1Working with children
Below is a table of documents relevant to diagnosis:
Document
4A
4B
4C
4D
4E
4F
4G
4H
Description
Care pathway models
List of other possible causes of hyperlipidaemia
Patient information sheet on FH
Lipid clinic referral form
Patient consent form (Newcastle example)
Patient consent form (Scotland example)
Example of DNA request form (Newcastle example)
Example of DNA request form (Scotland example)
Page
44
45
46
48
50
51
53
55
4.1 Introduction
The NICE guideline states that healthcare professionals should consider the
possibility of Familial Hypercholesterolaemia in adults with raised cholesterol (total
cholesterol typically greater than 7.5 mmol/l), especially when there is a personal or a
family history of premature coronary heart disease.
This section provides an overview of the practice of diagnosing FH in patients. It
includes information on recognising the clinical signs of FH; the official criteria used
for clinical diagnosis, diagnosis via LDL-C concentration measurements and DNA
testing; and the different approach required for diagnosis in children and young
people.
4.1.1 Summary of the process
The NICE guideline makes the following key recommendations about diagnosis of
FH:
34
1. Use the Simon Broome criteria to diagnose FH. These criteria are used
to diagnose both definite and possible FH in patients (see section 4.3.1
below).
2. All individuals should be offered a DNA test to confirm the
diagnosis and to assist in cascade testing of relatives. Once a clinical
diagnosis has been made, patients should then be offered DNA testing to
establish the precise mutation involved. DNA diagnosis should be the primary
resource tool once cascade testing commences.
3. CVD risk assessment tools such as those based on the Framingham
algorithm should not be used for people with FH. This is particularly
important to note for healthcare professionals in the primary care setting–
standard assessment tools for evaluating the general population for
cardiovascular risk are not sufficient as these patients are already at a high
risk of CHD and other diseases of the cardiovascular system
4. Children at risk of FH should undergo testing before the age of 10
years. In children at risk of FH because of one affected parent, the following
diagnostic tests should be carried out by the age of 10 years:
i. -a DNA test if the family mutation is known
ii. -LDL-C measurement if mutation is not known
4.2 Making an initial diagnosis
Patients with FH will most frequently be identified initially in the primary care
setting or in cardiology services. Once the initial diagnosis has been made, healthcare
professionals in both of these settings should refer patients to specialist lipid clinics
for assessment and confirmation of diagnosis of FH.
Document 4A depicts 2 care pathways for patients with FH. The first is based on the
assumption Specialist Lipid Clinics and a genetics testing centre that is offering DNA
tests for FH are already in place. In regions where this is the case, model 1 (as
illustrated below) would allow the implementation of the guideline through a fivestep care pathway, namely:
1.
2.
3.
4.
5.
Clinical assessment - for entry into the FH Cascade Testing Pathway
DNA Diagnosis (genotyping)
Cascade Testing in Families (based on genotype where possible)
Clinical management
Long term follow up – annual structured review
In this model, it is the role of the genetics service to undertake steps 2 and 3, while
steps 1, 4 and 5 would be undertaken by the Specialist Lipid Clinics.
Model 2 is more suitable for regions that do not have genetics centres able to provide
DNA testing or patient counselling, or where patients and/or relatives are unable to
make the journey to the centre. This is based on a triage model, where the genetic
clinical and laboratory components of the guideline are commissioned through
specialist commissioning, and the role of regionally based Cardiovascular Genetics
Specialist Nurses is expanded to provide sessional support for the Specialist Lipid
Clinics on an outreach basis (Model 2).
35
These two models are also reproduced elsewhere in this toolkit document for
additional reference.
Initial clinical diagnosis of FH is largely based on patient and family history and
laboratory testing. Physical examination may identify signs such as xanthomas and
cholesterol deposits in the eye (see section 4.3.2 for more detail). However,
healthcare professionals should be aware that the absence of such signs does not
exclude a diagnosis of FH.
Healthcare professionals should also keep in mind that hyperlipidaemia has a variety
of causes (including renal, hepatic and thyroid disease) which must first be excluded.
Document 4B is a list of other possible causes of hyperlipidaemia.
It should also be noted that risk estimation tools intended for the general population,
such as those based on the Framingham and QRISK algorithms, should not be used
to assess the cardiovascular and coronary heart disease risk in patients with FH. This
is because people with FH are already at a high risk of developing these conditions
prematurely.
4.3 Clinical Diagnosis
4.3.1 Simon Broome criteria
The Simon Broome criteria were developed following a study of a group of patients
with FH in the UK. These patients volunteered to have their details included on a
computerised research register (the Simon Broome register), which has been used to
chart the natural history of FH in this country.
The Simon Broome criteria define both definite and possible FH. In both cases, the
levels noted in the following table (table 1) should be used as the initial diagnostic
criteria:
table 1: Cholesterol levels to be used as diagnostic criteria for the index individual (levels
either pre-treatment or highest on treatment)
Child/young person
Adult
Total cholesterol
>6.7 mmol/l
>7.5 mmol/l
LDL-C
>4.0 mmol/l
>4.9 mmol/l
Definite diagnosis of FH
A person can be diagnosed with definite FH if they have the cholesterol or LDL-C
concentrations defined in table 1 above
Plus
 tendon xanthomas in patient, or evidence of these in first-degree relative (parent,
sibling or child), or in second-degree relative (grandparent, uncle or aunt)
Or
 DNA-based evidence of an LDL receptor (LDLR) mutation, familial defective apo
B-100 (APOB), or a PCSK9 mutation.
Possible diagnosis of FH
36
A person can be diagnosed with possible FH if they have the cholesterol or LDL-C
concentrations defined in table 1 above
And at least one of the following
 family history of myocardial infarction: younger than 50 years of age in seconddegree relative or younger than 60 years of age in first-degree relative
Or
 family history of raised total cholesterol: greater than 7.5 mmol/l in adult first- or
second-degree relative or greater than 6.7 mmol/l in child or sibling aged younger
than 16 years.
In both cases, patients should be referred to Specialist Lipid Clinic.
4.3.2 Clinical signs of FH
There are a number of clinical signs that can indicate that a patient is suffering from
high cholesterol, although the absence of clinical signs does not exclude a diagnosis of
FH According to the Simon Broome criteria, the only definitive clinical sign of FH is
tendon xanthomas.
Tendon xanthomas are cholesterol
deposits in the tendons, which
manifest themselves as
whitish/yellowish growths on the
knuckles, or growths/swellings in the
Achilles tendon.
Note: The NICE guideline does not
recommend the utrasonography of
the Achilles tendon for diagnosis of
FH.
Corneal archus, particularly at a young age, can be suggestive of FH.
Corneal arcus is a white
circumferential deposit in the
peripheral cornea caused by lipid
deposits.
A symptom of high cholesterol, but not of definitive FH is the Xanthelasma.
37
Xanthelasma is a flat growth
outside the eyelid, often yellowish in
colour. They are composed of fatty
material, and are an external
symptom of high cholesterol, but not
necessarily FH.
4.3.3 Patient care pathway for diagnosis
Figure 1 is an example of a primary care referral pathway for adult patients who have
been identified with a total cholesterol >7.5 mmol/l and/or LDL-Cholesterol of >4.9
mmol/l. Patients with these levels of cholesterol should be further assessed for a
potential diagnosis of FH. This model is used in Newcastle, and is applicable to the
services available in that area. Other examples may be used elsewhere in the country.
LDL-C testing is an important part of the diagnostic process for patients with
suspected FH. Total cholesterol levels alone are not sufficient and the NICE guideline
recommends that in order to confirm a clinical diagnosis of FH, healthcare
professionals should undertake 2 measurements of LDL-C concentration because
biological and analytical variability can occur. Patients should be advised that this
test should be carried out after fasting for 12 hours.
The guideline also specifies that healthcare professionals should consider a clinical
diagnosis of homozygous FH in adults with a LDL-C concentration >13 mmol/l and
in children/young people with an LDL-C concentration >11 mmol/l. All people with a
clinical diagnosis of homozygous FH should be offered referral to a specialist centre.
38
Figure 1: Diagnostic pathways for adults with potential FH
39
4.4 Informing patients of the diagnosis
According to the NICE guideline, “healthcare professionals should inform people
with a diagnosis of FH based on the Simon Broome criteria that they have a clinical
diagnosis of FH1”.
At this stage, patient should be provided with information about the condition, and
what they can expect from the ongoing treatment and management.
It should be noted that when talking to patients, the NHS National Genetics
Education and Development Centre advises that health professionals should use the
word ‘alteration’ rather than ‘mutation’ in reference to genes. This is in response to a
consultation with individuals who have a genetic condition around the terminology
they prefer to be used when their condition is described.
Document 4C is an example of a patient information sheet, which healthcare
professionals can use to talk through FH with newly diagnosed patients. It includes
information on the causes and symptoms of the condition, testing and treatments. It
also includes information about relevant patient support groups, including HEART
UK, should the patient wish to make contact. It can be taken away by patients should
they wish to do so.
4.4.1 Referral to lipid clinics
As per the flowchart depicted in figure 1, patients with possible or definite FH, as
defined by the Simon Broome criteria, should be referred for ongoing assessment,
treatment and management at a Specialist Lipid Clinic, where clinical management of
the condition can commence.
The lipid clinic will:
• confirm a clinical diagnosis of FH or alternative diagnosis and recommend coding
in primary care.
o EMIS code for familial hypercholesterolaemia C3200 (NB ? NEED CODES
FOR DEFINATE AND POSSIBLE).
o SYSTMONE code C3200.
• provide lifestyle and dietetic advice.
• start and/or titrate lipid lowering drug treatment, aiming to lower LDL cholesterol
by 50% or more. Combination therapies will often be needed, although these
should only be used following recommendation from specialist care.
• Provide information in women of child bearing age about the importance of
avoiding statins for 3 months before conception and throughout pregnancy.
• Identify and arrange investigation if there are any symptoms or signs of
cardiovascular disease.
• Recommend if family cascade screening is appropriate.
• Arrange follow up and an annual review.
All people with FH require an annual review. This may be done in the lipid clinic or in
primary care dependent on clinical need, and as a minimum includes:
• Fasting lipid profile; comparison to previous level of LDL cholesterol and review of
LDL lowering from baseline
• Current drug treatment, concordance and any problems with side effects
• Lifestyle and dietetic review and advice
1
NICE Clinical guideline page 11
40
• Identify any symptoms or signs of cardiovascular disease or new cardiovascular
event, and arrange appropriate investigation
Document 4D is an example of a lipid clinic referral form, currently used in NHS
North Tyne. This document should contain the referrer’s details, the patient’s details,
and the results of their biochemical tests that instigated the referral. A similar form
may be produced for use in your area.
4.4.2 Lipid Clinics in your area
To identify Lipid Clinics in your area, you may wish to use the facility on the HEART
UK website:
http://www.heartuk.org.uk/lipidclinics/index.php?/maps/main_uk_map/
(NB - THIS IS NOT UP TO DATE, NEED A REMINDER TO ALL TO CHECK)
4.5 DNA Testing
Once a patient has been diagnosed with clinical FH, using the Simon Broome criteria
outlined above (including analysis of LDL-C), the NICE guideline recommends that
they should be offered a DNA test. DNA tests are used to examine the specific gene
mutation. In terms of the roll-out of the NICE guideline as a whole, DNA testing is
also is an important step towards initiating cascade testing, as it helps to identify
whether certain relatives are at particular risk of the condition.
Genetic or DNA testing is used to supplement the clinical diagnosis in the index
patient. It should be the primary resource tool once cascade testing commences, to
identify mutations in other family members – although a clinical diagnosis will
usually be made as well.
All patients who have an identified mutation diagnosis of FH should be informed that
they have an unequivocal diagnosis even if their LDL-C concentration does not meet
diagnostic criteria.
When DNA testing has shown that a family member does not have FH, healthcare
professionals should manage the person’s risk of cardiovascular disease and coronary
heart disease as per the general population.
4.5.1 Procedures in DNA testing
The guideline recommends that the same protocols and diagnosis procedures used
routinely for cystic fibrosis, familial breast cancer or other genetic diseases should be
adopted in the case of FH.
4.5.2 Consent from patients
Before DNA testing can be carried out, the patient must have been fully informed of
the process, and have given consent for the test to go ahead. This should be obtained
by the healthcare professional dealing with the patient.
Documents 4E and 4F are examples of two records of consent from patients, used in
Newcastle and Scotland respectively.
4.5.3 Referral for DNA testing
41
Documents 4G and 4H are example of a request forms for DNA testing for FH. This
includes personal information about the patient; relevant clinical features; and (if the
test is part of cascade testing of family members) details of the patient’s relationship
to the index patient.
The toolkit also contains an example of a record of the DNA test results document
4I), which includes details of the discussion with the patient following the diagnosis,
noteworthy details about the conversation, and any concerns they may have raised.
This should be stored in the patient’s medical records and family file.
4.6 Diagnosing FH in children
In children at risk of FH because of one affected parent (heterozygous), a DNA test (if
family mutation is known) or LDL-C measurement (if family mutation is not known)
should take place before the age of 10, or at the earliest possible opportunity after this
age.
When excluding a diagnosis of FH using LDL-C, a further test should take place after
puberty, as concentrations can be affected by puberty.
In children at risk of homozygous FH, (as they have two affected parents), or because
of the presence of clinical signs (such as xanthomas), LDL-C measurements should be
taken before the age of 5 years, or at the earliest opportunity after this age. If the
LDL-C concentration is greater than 11 mmol/l then a clinical diagnosis of
homozygous FH should be considered.
4.6.1 Working with children
Care and sensitivity should be used when working with children; for the benefit of
both the child and their parent or guardian. Below are a number of useful points to
remember when the patient in question is below the age of 10, or requires parent or
guardian supervision (? REFERENCE FOR THIS).








Where possible, the parents should be asked to let the child know that the
visit to the healthcare professional may involve a blood test.
The NICE guideline recommends that children are not tested for FH before
the age of two years. A child under the age of five should not be tested unless
there is a specific request from the parents or guardians and good reason for
doing so.
Where possible children should be tested before the age of ten, this helps to
implement an appropriate lifestyle e.g. diet and exercise, and prevent
smoking before the child reaches adolescence.
Children should not be treated as the index patient; family details should only
be obtained from the parents or guardians.
Explain procedures to both the child and the parent(s) or guardian(s).
Toys can be used to distract a child during the blood test, or else parents or
guardians can be asked to keep the child entertained during the procedure.
If a child is very distressed don’t do the test. You should use your professional
judgement to decide whether the child should return at a later date e.g
12months later, or if the parent or guardian should be advised to take them to
a GP.
For younger children, finger puppets can be a good conversation starter.
42
43
Document 4A: Care pathway models
44
Document 4B: A list of other possible causes of hyperlipidaemia
Secondary causes of dyslipidaemias
Condition /
drug treatment
Lipid change
Cholesterol
Diabetes mellitus
Untreated
hypothyroidism
Alcohol excess
Obesity
Chronic renal
failure
Nephrotic
syndrome
Cholestasis
Gout
Pregnancy
Anorexia nervosa
Hypopituitarism
Long term drug
treatment
Anticonvulsants
Androgens
Atypical
antipsychotics
Beta blockers
Corticosteroids
Ciclosporin
HIV/antiretroviral drugs
Oral oestrogens
Retinoids
Triglycerides HDL
cholesterol
++/+
-
++
+
++/+
+
++
++
+
+
-
++
+/+
+/+++
+
+/++
++/+
-
+/+++
+/+++
+/++
-/--
+
+
+
+
+
+/++
-
+
++/+
+
-
45
Document 4C : A patient information sheet on FH (NB ONLY PAGES 1,2,7 &8
HERE)
46
47
Document 4D: A Lipid clinic referral form
REFERRAL OF ADULTS (≥16 yrs) WITH POSSIBLE FAMILIAL
HYPERCHOLESTEROLAEMIA (FH) TO THE LIPID CLINIC
This form can be used to refer adults with possible/definite FH to the lipid clinic. The local
guidelines for patients with possible or definite FH provide more information.
Date of Referral;
Referring G.P: ……………………………………………
Patient’s Surname: ……………………………………...
Address:…………………………………………………..
Previous Surname (if married):
……………………………………………………………..
Forename(s): …………………………………………….
……………………………………………………………..
Address: ………………………………………………….
……………………… Post Code: ………………………
……………………………………………………………..
Telephone No: …………………………………………..
……………………………Postcode: …………………...
Fax No: …………………………………………………..
Telephone No. Daytime: ………………………………..
Evening: ………………………………..
Special Needs: (e.g. hearing loss, physical disability)
Interpreter Required:
□ Yes
D.O.B.
NHS No: ………………………………………………….
□ No
Hospital ID No if available: ……………………………
Language:…………………………….
BIOCHEMICAL RESULTS TO ACCOMPANY THE REFERRAL
Lipid profiles (at least one fasting), preferably pre-treatment
Date;
Total chol
.
HDL-C
.
Trigs
Date;
Total chol
.
HDL-C
.
Trigs
Fasting glucose
.
Date
TSH
.
Date;
LFTs
Date
Total protein
Albumin
Urine protein quantification (PCR or ACR (ring one))
Age:
HbA1C if diabetic
Creatinine
Bilirubin
.
.
.
LDL-C (fasting)
LDL-C (fasting)
.
Alk phos
Date
.
.
Date
Date;
ALT
CLINICAL INFORMATION and DRUG HISTORY
Is there a personal history or are there first degree relatives with proven coronary disease < 60 years?
Yes
No
Are there second degree relatives with proven coronary disease < 50 years?
Yes
No
Is there a family history of cholesterol > 7.5 mmol/l?
Are tendon xanthomata present?
Yes
Yes
No
No
Alcohol consumption (units per week)
48
List any recent drugs which may cause hyperlipidaemia (attach list of all current drugs)
Please send completed forms with a copy of the patient’s current drug history and details of any
other relevant history to the Lipid Clinic
Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust
North Tyneside Hospital, Northumbria Healthcare Foundation Trust
PLEASE SEND ALL REQUESTS TO THE ECHOCARDIOGRAPH DEPARTMENT, FREEMAN HOSPITAL, or
FAX to 0191 YYYYY
49
Document 4E: Patient consent form (Newcastle)
CONSENT FORM
Genetic test for Familial Hypercholesterolaemia (FH) for confirmation of diagnosis and family cascade
testing.
Please initial box
1. I confirm that I have read and understand the information sheet and have had
opportunity to ask questions.

the

2.
I understand that if I choose not to have a genetic test for FH this will not
affect my medical care.
3.
I give consent for my General Practitioner (GP) and the specialist involved in the
management of my cholesterol to be informed of the results of my genetic test.
4.
I give consent for my sample to be stored so that it can be retested for the same
purpose should new tests or knowledge become available.
5.
I understand my results may enable other family members to benefit from genetic
testing. I give / do not give consent for genetic information that may be relevant



to other family members to be made available, if requested, for their benefit
6.
I give consent for my results to be held on a secure regional database.

________________________
Name of Patient
________________
Signature
_______________
Date
_________________________
Name of Person taking consent
________________
Signature
_______________
Date
1 for patient; 1 clinic file (where appropriate); 1 to be kept with hospital notes
50
Document 4F: Patient consent form (Scotland)
NORTH OF SCOTLAND REGIONAL GENETICS SERVICE
Clinical Genetics Centre
Ground Floor, Ashgrove House
Foresterhill, Aberdeen, AB25 2ZA
CONSENT FOR GENETIC SAMPLE STORAGE AND ANALYSIS
Person giving consent:
Name:
Address:
Sample from:
(Name, DoB, relationship (e.g.
self, child etc)
DoB:
CHI:
Hospital No:
Pedigree:
Nature of sample:
RECORD OF CONSENT:
A I,…………………, agree to analysis of the sample for
…………………………........
B I would like to be told the results of the test
Y
N
C I agree that the sample may be stored in case future checks or tests
are required.
Y
N
D If a new method of doing the gene test is developed, the stored
sample can be re-checked using the new method. I understand
that I will be contacted if this changes the result.
Y
N
E To check the quality of our results for other patients, and for teaching Y
and training it is helpful to use part of the stored sample anonymously.
I agree that the stored sample may be used in this way.
N
If I am unable to receive the results of my test, I would
like the results to be given to: (e.g. next of kin)
…………………………………………………….
Results from the test may enable other family members to benefit from genetic
testing. I agree that information and test results may be shared to help other family
members.
Signed………………………………………… Date………………………………….
51
PRACTITIONER’S SECTION:
I,……………………., confirm that I have explained the purpose of the genetic tests.
Signed………………………………………… Date……………………………………
Blood samples
RNA/DNA analysis 10mls each in EDTA tubes.
For further advice about genetic testing phone 01224 552 120
52
Document 4G: Example of DNA test request form (Newcastle)
FAMILIAL HYPERCHOLESTEROLAEMIA DNA TESTING REQUEST
SHEET
Completion of this audit form is required as a prerequisite to molecular analysis
Patient surname:
Forenames:
Date of birth:
dd/mm/yy
Ethnic origin:
Family file number:
RELEVANT CLINICAL FEATURES
Value
Pre-treatment
Post-treatment
Biochemical
Highest total cholesterol (mmol/l or
mg/dl)
Highest LDL cholesterol (mmol/l or mg/dl)
Total cholesterol > 7.5 mmol/l in 1st or 2nd degree relative
Physical
Tendon xanthoma in patient or 1st or 2nd degree relative
Premature coronary heart disease
MI < 60 years in 1st degree or < 50 years in 2nd degree
relative
YES
DEFINITE OR POSSIBLE FH (as defined by Simon Broome criteria)
Definite FH
Yes / No
Possible FH
Yes / No
For relatives, please supply:
Relationship to proband
Proband Name
Proband DoB
Proband Hospital number
Proband GOSH ID
Mutation identified
53
Reason for test
GKP Project
Diagnostic confirmation
Diagnostic query
Testing of other relatives
Indicate approx. number of relatives at  25% risk
Tick as appropriate
In submitting the request it is assumed the clinician has obtained informed consent.
Contact in case of queries:
Name:
Contact details:
54
Document 4H: Example of DNA test request form (Scotland)
SCOTTISH MOLECULAR GENETICS CONSORTIUM
Department of Medical Genetics
Polwarth Building,
University of Aberdeen,
Foresterhill,
Aberdeen, AB25 2ZR
Tel 01224-553-888
Fax 01224-559-390
FAMILIAL HYPERCHOLESTEROLAEMIA (FH)
DNA TEST REQUEST FORM
Patient details
Name:
Address:
Referrer details
Name:
Address for report:
Dob:
CHI:
Hospital No:
Family No:
Sex:
Contact No:
Or E-mail
Date of sample:
Time of sample:
PLEASE ENSURE PATIENT DETAILS ARE ALSO RECORDED
ON SAMPLE
The following clinical details are required to enable us to develop the service in an evidence
based manner targeted for our population, and are therefore required. Free testing is
available for index cases who fulfil definite or possible Simon Broome criteria (see
www.nice.org.uk/nicemedia/pdf/CG071QuickRefGuide.pdf ), and are Scottish residents.
Test requests in other circumstances should be discussed with the laboratory.
TYPE OF TEST REQUESTED
Mutation screen of LDL-R and common mutations in Apo B/PCSK9 for index case in family 
Test for mutation already found in family (genetics access only)
1) DOES PATIENT HAVE:
 Total cholesterol >7.5mmol/l (>6.7mmol/l in child <16yrs)
 LDL cholesterol >4.9mmol/l (>4.0mmol/l in child <16yrs)
 tendon xanthomas in patient, or in a 1st or 2nd degree relative
 Family history of myocardial infarction: <50 yrs in a 2nd degree relative, or
<60 yrs in a 1st degree relative.
 Family history of raised total cholesterol: >7.5mmol/l in adult 1st or 2nd degree relative
or >6.7mmol/l in child or sibling <16 yrs.
Please include the following information ABOUT YOUR PATIENT if you have it:
Pre-treatment Total cholesterol
(fasting
Y
N D/K)
__ mmol/l
Current Total cholesterol
(fasting
Y
N D/K)
mmol/l
Pre-treatment LDL-cholesterol
(fasting
Y
N D/K)
mmol/l
Current LDL-cholesterol
(fasting
Y
N D/K)
mmol/l
2) SECONDARY CAUSES of hypercholesterolaemia excluded? (e.g. LFT, TFT)
If no, please exclude before requesting test
Y
N
D/K
3) IF PATIENT DOES NOT FULFILL SIMON BROOME CRITERIA, PLEASE
EXPLAIN BELOW WHY YOU THINK THE SAMPLE SHOULD BE TESTED:
It is the referring clinician’s responsibility to obtain informed consent from the
patient/carer for the test and for the sample to be stored for any future diagnostic
testing
CLINICIAN SIGNATURE_____________________
DATE --------------------------