Definite FH

(Simon Broome

criteria)

Adult = total cholesterol levels > 290 mg/dL (7.5 mmol/L) or LDL‐Cholesterol > 190 mg/dL (4.9 mmol/L)
Child less than 16 years of age = total cholesterol levels > 260 mg/dL (6.7 mmol/L) or LDL‐Cholesterol > 155 mg/dL (4.0 mmol/L)
Plus at least one of the two:
1. plus physical finding = tendinous xanthomas, or tendinous xanthomas in first or second‐degree relative
OR
2. DNA‐based evidence of an LDL‐receptor mutation, familial defective apo B‐100, or a PCSK9 mutation.

Possible FH

(Simon Broome

criteria)

Adult = total cholesterol levels > 290 mg/dL (7.5 mmol/L) or LDL‐Cholesterol > 190 mg/dL (4.9 mmol/L)
Child = less than 16 years of age = total cholesterol levels > 260 mg/dL (6.7 mmol/L) or LDL‐Cholesterol > 155 mg/dL (4.0 mmol/L)
Plus at least one of the two:
1. family history of at least one of the following:
‐ myocardial infarction at 60 years or younger in first‐degree relative OR

‐ myocardial infarction at 50 years or younger in second‐degree relative
OR
2. family history of elevated total cholesterol:

‐ > 290 mg/dL (7.5 mmol/L) in adult first‐ or second‐degree relative OR
‐ > 260 mg/dL (6.7 mmol/L) in child, brother or sister aged younger than 16 years.

CENTRAL, the Cochrane Library

via the Cochrane Library: (www.cochranelibrary.com/)

Searched: All years

#1. MeSH descriptor: [Hyperlipoproteinemia Type II] explode all trees

#2. familial hypercholesterolaemia:ti,ab

#3. MeSH descriptor: [Hyperlipoproteinemias] explode all trees

#4. "hyperlipoproteinemia type IIb"

#5. (hyperlipoproteinemia type 2):ti,ab,kw

#6. (hyperlipoproteinemia type 2b):ti,ab

#7. "hyperlipoproteinemia type 2a"

#8. "hyperlipoproteinemia type IIa"

#9. MeSH descriptor: [Hyperlipidemia, Familial Combined] explode all trees

#10. MeSH descriptor: [Hyperlipoproteinemia Type I] explode all trees

#11. MeSH descriptor: [Hyperlipoproteinemia Type IV] explode all trees

#12. "lipoprotein lipase deficiency"

#13. "inherited hypercholesterolaemia"

#14. "inherited hypercholesterolemia"

#15. “familial hyperchylomicron”

#16. #1 or #2 or #3 or #4 or #5 or #6 or #7 or #8 or #9 or #10 or #11 or #12 or #13 or #14 or #15

PubMed

(www.ncbi.nlm.nih.gov/pubmed)

(1946 to present)

#1. “hypercholesterol*”[Title/Abstract]

#2. “hyperlipoprotein*”[Title/Abstract]

#3. “familial hypercholesterolemia”[Title/Abstract]

#4. “familial hypercholesterolaemia”[Title/Abstract]

#5. “familial hyperlipoproteinemia”[Title/Abstract]

#6. “familial hyperlipoproteinaemia”[Title/Abstract]

#7. “familial hypercholesterolemia with hyperlipidemias”[Title/Abstract]

#8. “familial combined hyperlipidemia”[Title/Abstract]

#9. “hypertriglyceridemia, familial”[Title/Abstract]

#10. “hypertrigly*”[Title/Abstract]

#11. “hyperlipoproteinemia TYPE 2”[Title/Abstract]

#12. “hyperlipoproteinemia TYPE 2A”[Title/Abstract]

#13. “hyperlipoproteinemia TYPE 2B”[Title/Abstract]

#14. “hyperlipoproteinaemia TYPE 2”[Title/Abstract]

#15. “hyperlipoproteinaemia TYPE 2A”[Title/Abstract]

#16. “hyperlipoproteinaemia TYPE 2B”[Title/Abstract]

#17. “combined hyperlipidemia, familial”[Title/Abstract]

#18. “familial lipoprotein lipase deficiency”[Title/Abstract]

#19. “autosomal dominant hypercholesterolemia”[Title/Abstract]

#20. (#1 or #2 or #3 or #4 or #5 or #6 or #7 or #8 or #9 or #10 or #11 or #12 or #13 or #14 or #15 or #16 or #17 or #18 or #19)

#21. “general practice”[Title/Abstract]

#22. “primary health care”[Title/Abstract]

#23. “general Practitioner”[Title/Abstract]

#24. “GP”[Title/Abstract]

#25. “community”[Title/Abstract]

#26. (#21 or #22 or #23 or #24 or #25)

#27. “detect*”[Title/Abstract]

#28. “diagnosis”[Title/Abstract]

#29. “diagnose*”[Title/Abstract]

#30. “laborator*”[Title/Abstract]

#31. “patholog*”[Title/Abstract]

#32. “database”[Title/Abstract]

#33. “record”[Title/Abstract]

#34. “screen*”[Title/Abstract]

#35. “mass screen”[Title/Abstract]

#36. “family”[Title/Abstract]

#37. “familial”[Title/Abstract]

#38. “audit”[Title/Abstract]

#39. (#27 or #28 or #29 or #30 or #31 or #32 or #33 or #34 or #35 or #36 or #37 or #38) #40.(#20 and #26 and #39)

MEDLINE (OvidSP)

(1946 to present)

1. (familial or inherited) adj2 (hypercholesterol?emia$).tw.

2. Hyperlipoproteinemia Type II/

3. (Hyperlipoprotein?emia$) adj (type II or type IIa or type IIb or type 2 or type 2a or type 2b).tw.

4. 1 or 2 or 3

5. general practice$.tw.

6. GP.tw.

7. (primary adj (health or care)).tw.

8. ((family or community) adj (medicine or practice)).tw.

9. Primary Health Care/

10. exp General Practice/

11. 5 or 6 or 7 or 8 or 9 or 10

12. ((((medical or health or patient$ or electronic) and record$ or database$ or data or audit or reminder$ or tool$)) or (diagnos$ or identif$ or detect$)).tw.

13. 11 and 12

14. laborator$.tw.

15. Laboratories/

16. patholog$.tw.

17. Pathology/or Pathology, Clinical/

18. 14 or 15 or 16 or 17

19. (record$ or database$ or data or audit or tool$ or diagnos$ or identif$ or detect$).tw.

20. 18 and 19

21. screen.tw.

22. mass screening/

23. 21 or 22

24. 23 and (11 or 18)

25. ((family or relative$) and test$).tw.

26. 13 or 20 or 24 or 25

27. 4 and 26

Embase (Ovid SP)

(1974 to present)

1. HYPERLIPOPROTEINEMIA/

2. Hypercholesterolaemia.mp.

3. Hypercholesterolaemia.tw.

4. Hyperlipoproteinemia.mp

5. hyperlipoproteinemia.tw.

6. familial hypercholesterolaemia/

7. hypertriglycer$.tw.

8. hyperlipid$.tw.

9. lipoprotein lipase deficienc$.tw.

10. hyperlipoproteinemia Type 2.tw.

11. autosomal dominant hypercholesterol$.tw.

12. familial hypertriglyceridemia$.tw.

13. 1 or 2 or 3 or 4 or 5 or 6 or 7 or 8 or 9 or 10 or 11 or 12

14. general practice.tw.

15. GP.tw.

16. primary health care.tw.

17. community.tw.

18. 14 or 15 or 16 or 17

19. laboratory.tw.

20. laboratories.tw.

21. screen.tw.

22. mass screening.tw.

23. detection.tw.

24. audit.tw.

25. record.tw.

26. 19 or 20 or 21 or 22 or 23 or 24 or 25

27. 13 and 18 and 26

CINAHL

(EBSCOHost)

(1937 to present)

S1 (MH "familial hypercholesterolemia” OR MH “hypertriglyceridemia” OR MH “hyperlipidemia” OR MH “hyperlipoproteinemia”)

S2 (TI “clinic” OR TI “clinical practice” OR TI “general practice” OR TI “gp” OR TI “general practitioner” OR TI “community” OR TI”primary care” OR TI “primary health care” OR TI “primary

healthcare”)

S3 (TI “detection” OR TI “database” OR TI “laboratory” OR TI “audit” OR TI “screening” OR TI “mass screening” OR TI “records” OR TI “identification” OR TI “identity”)

S4 S1 AND S2 AND S3

ProQuest Dissertations & Theses

(www.proquest.com/)

(1861 to present)

ti(familial hypertriglyceridemia) OR ti(hypercholesteremia) OR ti(hyperlipidemia) OR ti(familial combined hyperlipidemia) AND ti(mass screening) OR ti(audit) OR ti(diagnosis) OR ti(identifying) OR ti(identify risk) OR ti(database) OR ti(detection) AND ti(general practice) OR ti(general practitioners) OR ti(clinical practice) OR ti(primary care) OR ti(primary health care) OR ti(community)

WEB OF SCIENCE

(CPCI‐S)

(1898 to present)

#1 TS=(familial hypercholesterolaemia) OR TS=(familial hypercholesterolemia) OR TS=(hyperlipidaemia) OR TS=(hyperlipidemia) OR TS=(familial combined hyperlipidaemia) OR TS=(familial combined hyperlipidemia) OR TS=(hyperlipoproteinaemia) OR TS=(hyperlipoproteinemia) OR TS=(familial hypertriglyceridemia) OR TS=(familial hypertriglyceridaemia)

#2 TI=(screen) OR TI=(mass screen) OR TI=(audit) OR TI=(detect*) OR TI=(identify) OR TI=(identification) OR TI=(record) OR TI=(diagnose) OR TI=(diagnosis)

#3 TI=(GP) OR TI=(general practice) OR TI =(general practitioner) OR TI=(primary health) OR TI=(primary health care) OR TI=(primary healthcare) OR TI =(laboratory) OR TI=(community)

#4 #1 AND #2 AND #3

SCOPUS

(Elsevier)

(1823 to present)

familial PRE/1 hypercholesterolaemia OR hyperlipidemia OR hyperlipidaemia OR hyperlipoproteinemia OR hyperlipoproteinaemia OR hypertriglycerolaemia OR hypercholesterolaemia OR hypercholesterolemia AND mass PRE/1 screening OR diagnosis OR audit OR detect OR record OR database OR identify OR identification AND general practice OR general practitioner OR GP OR primary health care OR primary healthcare OR community OR laboratory OR clinic OR clinical practice

ISRCTN registry

(www.isrctn.com/)

(All years)

(hypercholesterolaemia) OR (hypercholesterolemia) OR (hyperlipidemia) OR (hyperlipidaemia) OR (hyperlipoproteinaemia) OR (hyperlipoproteinemia) OR (hypertryglycerolaemia) within Condition: (familial hypercholesterolaemia) OR (familial hypercholesterolemia)

Clinical Trials.gov

(www.clinicaltrials.gov)

(All years)

ADVANCED SEARCH

Condition: familial hypercholesterolemia

Study type: All studies

WHO International Clinical Trials

Registry Platform (ICTRP)

(https://www.who.int/clinical-trials-registry-platform)

(All years)

ADVANCED SEARCH

Search 1: Title: hypercholesterolaemia AND Condition: familial hypercholesterolaemia

Search 2: Title: hypercholesterolemia AND Condition: familial hypercholesterolemia

HEART UK (heartuk.org.uk) (All years)

The FH Foundation (https://the fhfoundation.org/) (All years)

familial hypercholesterolaemia OR familial hypercholesterolemia OR hyperlipidemia OR hyperlipidaemia OR inherited hypercholesterolaemia OR inherited hypercholesterolemia OR hyperlipoproteinaemia OR hyperlipoproteinemia

National Institute for Health and Care Excellence (www.nice.org.uk/) (All years)

Scottish Intercollegiate Guidelines Network (www.sign.ac.uk) (All years)

National Institute for Health and Care Excellence Clinical Knowledge Summaries (cks.nice.org.uk/)(All years)

familial hypercholesterolaemia OR familial hypercholesterolemia OR hyperlipidemia OR hyperlipidaemia OR inherited hypercholesterolaemia OR inherited hypercholesterolemia OR hyperlipoproteinaemia OR hyperlipoproteinemia

HEART UK Annual Scientific Conference(s) (heartuk.org.uk) (All years)

British Cardiovascular Society Conference(s) (www.bcs.com) (All years)

European Atherosclerosis Society Conference(s) (www.eas-society.org) (All years)

familial hypercholesterolaemia OR familial hypercholesterolemia OR hyperlipidemia OR hyperlipidaemia OR inherited hypercholesterolaemia OR inherited hypercholesterolemia OR hyperlipoproteinaemia OR hyperlipoproteinemia OR familial hypercholesterolaemia OR autosomal dominant familial hypercholesterolemia

Jounals (reference lists):

Heart (heart.bmj.com/) (All years)

Atherosclerosis (www.atherosclerosis-journal.com) (All years)

Journal of Clinical Lipidology (www.lipidjournal.com/) (All years)

Current Opinion in Lipidology (www.ovid.com/site/catlog/journals/439.jsp) (All years)

Journal of Inherited Metabolic Disease (link.springer.com/journal/10545) (All years)

familial hypercholesterolaemia OR familial hypercholesterolemia OR hyperlipidemia OR hyperlipidaemia OR inherited hypercholesterolaemia OR inherited hypercholesterolemia OR hyperlipoproteinaemia OR hyperlipoproteinemia