Update History
Condition: Heterozygous Familial Hypercholesterolemia
Gene/Gene Panel: LDLR, APOB, PCSK9
Context: Adult
2023/06/28
Released
3.0.4
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2023/06/28
Released
(Under revision)
3.0.3
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2023/05/03
Released
3.0.3
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2023/03/30
Released
(Under revision)
3.0.2
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2022/02/09
Released
3.0.2
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2022/02/09
Released
(Under revision)
3.0.1
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2021/06/07
Released
3.0.1
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR
⇔
0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Definitive Actionability
APOB
⇔
0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Definitive Actionability
PCSK9
⇔
0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Definitive Actionability
2021/03/15
Released
(Under revision)
3.0.0
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
2020/09/21
Released
3.0.0
Clinical cardiovascular events
(GroupA)
Lipid lowering therapy to FH appropriate LDL-C goal
(GroupA)
10CB
2019/10/03
Released
(Under revision)
2.1.0
Clinical cardiovascular events
Oral hypercholesterolemia treatment to FH appropriate goal
11CA
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
2.1.0
Clinical cardiovascular events
Oral hypercholesterolemia treatment to FH appropriate goal
11CA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
2.0.1
Clinical cardiovascular events
Oral hypercholesterolemia treatment to FH appropriate goal
11CA
Internal system migration related to score text replacement from E to N
2018/05/21
Released
2.0.0
Clinical cardiovascular events
Oral hypercholesterolemia treatment to FH appropriate goal
11CA