The Wales FH Cascade Testing Initiative Dr Ian McDowell
FH in Wales Ian McDowell - Heart UK
FH in Wales Ian McDowell - Heart UK
You also want an ePaper? Increase the reach of your titles
YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.
Scoring Criteria for patients with possible Familial Hypercholesterolaemia<br />
Please note these criteria only apply for index cases, not famil y members of known genotype<br />
positive patients.<br />
Family<br />
History<br />
Physical<br />
Examination<br />
Lipid<br />
Lowering<br />
Treatment<br />
Untreated or<br />
corrected<br />
LDL-<br />
Cholesterol<br />
Concentrations<br />
(mmol/l)<br />
Fasting<br />
Triglycerides<br />
(mmol/l)<br />
•First degree relative (FDR) known with premature ( 5mmol/l<br />
•FDR with tendon xanthomata and/or corneal arcus (< 45yrs)<br />
•FDR ( 3.5mmol/l<br />
•Tendon xanthomata<br />
•Corneal arcus (< 45yrs)<br />
•Is patient on lipid lowering treatment? YES / NO<br />
oIf NO, go to Untreated LDL- Cholesterol Concentrations<br />
oIf YES, give details ……………………………………<br />
If untreated LDL-C values are unobtainable see attached sheet (Correction Factor Table)<br />
and calculate estimated value.<br />
•LDL-C > 8.5<br />
•LDL-C 6.5 – 8.4<br />
•LDL-C 5.0 – 6.4<br />
•LDL-C 4.0 – 4.9<br />
•Tg 2.5 – 3.5<br />
•Tg 3.5 – 5<br />
•Tg > 5<br />
Points<br />
minus 2<br />
minus 3<br />
minus 4<br />
Proband eligibility for <strong>FH</strong> genotyping is based on total points score<br />
Only one score from each box<br />
>8 usually eligible for genotyping<br />
6-8 eligible if funding available<br />
5 or less usually not unless exceptional circumstances<br />
Forms which are unclear, incomplete or not eligible for genotyping will be returned to the requesting clinician<br />
and the sample stored for X months for possible future use.<br />
1<br />
1<br />
2<br />
2<br />
6<br />
4<br />
8<br />
5<br />
3<br />
1
Change language