Familial Chylomicronaemia (FCS) genetic testing

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Familial Chylomicronaemia (FCS) genetic testing
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Familial Chylomicronaemia (FCS) genetic testing request form Bristol Genetics Laboratory Pathology Sciences Southmead Hospital Bristol, BS10 5NB Attach patient label here Name Date of birth

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Familial Chylomicronaemia (FCS) genetic testing request form Bristol Genetics Laboratory
Pathology Sciences
Southmead Hospital
Bristol, BS10 5NB Attach patient label here

Name ___________________________

Date of birth ______________________

NHS number ______________________ Diagnostic Service Queries:

nbn-tr.FHserviceBGL@nhs.net Please complete this section as fully as possible for all cases PLEASE USE THE FOLLOWING FCS SCORING TOOL TO MARK WHICH OF THE FOLLOWING POINTS APPLY AND GENERATE A SCORE FOR YOUR PATIENT
Fasting TG >10 mmol/L for 3 consecutive blood analysis (+5)
Fasting TGs >20 mmol/L at least once (+1)
Previous TG <2 mmol/L at least once(-5)
No secondary factor (except pregnancy and ethinyl oestradiol) (+2)
History of pancreatitis (+1)
Unexplained recurrent abdominal pain (+1)
No family history of familial combined hyperlipidaemia (+1)
No response (TG decrease <20%) to hypolipidaemic treatment (+1)
Onset of symptoms at age
<40 years (+1)
<20 years (+2)
<10 years (+3) Total Score = This information will be reviewed as a pilot study to evaluate the utility of the FCS clinical scoring tool as a triage for genetic testing. Genetic testing is currently appropriate for patients scoring >8 or above.
Moulin P et al Atherosclerosis 2018;275:265-272 Clinician details:

Name____________________________

Hospital _________________________

Email ____________________________ Peak triglyceride
concentration (mmol/L) ………………………..

Lowest triglyceride
concentration (mmol/L) ………………………..

Apolipoprotein B
(pre–treatment, if known) in g/L…………...

Evidence of chylomicron layer YES/NO

Frederickson classification
on Electrophoresis (if known) ……………… DEMOGRAPHICS

Ethnicity………………………..

BMI Kg/M2…………………….

LIPIDS

Full lipid profile
(Pre-treatment) in mmol/L

Total Cholesterol ………………
Triglycerides……………………..
HDL-Cholesterol………………..
LDL-Cholesterol…………………
Non-HDL-Cholesterol……….. PANCREATITIS

Any history of pancreatitis?
YES/NO

If yes, how many episodes?……………

Any family history of hypertriglyceridaemia or pancreatitis? Details (if known)
YES/NO<br>