THE PENETRANT FEATURE OF VENOUS THROMBOEMBOLISM IN FAMILIES WITH INHERITED THROMBOPHILIA FROM NATURAL ANTICOAGULANT DEFICIENCY IN KOREA
(Abstract release date: 05/21/15)
EHA Library. Jung Y. 06/12/15; 102624; PB2061
Disclosure(s): Samsung Medical CenterLaboratory Medicine and Genetics
Yu Jung Jung
Contributions
Contributions
Abstract
Abstract: PB2061
Type: Publication Only
Background
Inherited thrombophilia is a genetic predisposition to develop venous thromboembolism (VTE) from either deficiency of natural anticoagulants (NA) or increased procoagulant activity. Deficiencies of NA such as protein C (PC), protein S (PS) and antithrombin (AT) are relatively common in Asian populations. It has been acknowledged that the development of VTE is affected by various factors other than genetic predisposition such as environmental influences and other modifiers.
Aims
The purpose of this study was to investigate the penetrance of VTE in families with inherited thrombophilia from NA deficiency in Korea.
Methods
The authors reviewed the family history and family study results in a cohort of consecutive patients with VTE from genetically confirmed NA deficiency between January 2005 and December 2014 at a single tertiary institution in Seoul, Korea.
Results
A total of 87 probands were VTE patients with PC (N=44), PS (N=21), or AT (N=22) deficiency confirmed by molecular genetic tests (mean age: 40 years; 62 men and 25 women). The family history of the parents was available in 78 probands, and a positive VTE history was ascertained in 7 (9%). Family study was performed in both or either one of the parents in 10 probands, and 11 parents of either side (mean age: 55 years; 4 fathers and 7 mothers) were confirmed to have the same mutation as in the probands. Among them, 2 had a history of VTE (18%).
Summary
To our knowledge, this is the first study to investigate the family history of VTE in a large cohort of probands with genetically confirmed NA deficiency. The results demonstrated a low penetrance of VTE in the parents of the probands, even in genetically confirmed cases. The data suggested that the environmental factors (possibly generation-dependent) have implications for the index of suspicion in inherited thrombophilia and genetic counseling in VTE patients. A further study involving siblings of the probands is believed to better delineate the penetrance feature.
Keyword(s): Genetic, Inherited thrombophilia, Venous thromboembolism
Session topic: Publication Only
Type: Publication Only
Background
Inherited thrombophilia is a genetic predisposition to develop venous thromboembolism (VTE) from either deficiency of natural anticoagulants (NA) or increased procoagulant activity. Deficiencies of NA such as protein C (PC), protein S (PS) and antithrombin (AT) are relatively common in Asian populations. It has been acknowledged that the development of VTE is affected by various factors other than genetic predisposition such as environmental influences and other modifiers.
Aims
The purpose of this study was to investigate the penetrance of VTE in families with inherited thrombophilia from NA deficiency in Korea.
Methods
The authors reviewed the family history and family study results in a cohort of consecutive patients with VTE from genetically confirmed NA deficiency between January 2005 and December 2014 at a single tertiary institution in Seoul, Korea.
Results
A total of 87 probands were VTE patients with PC (N=44), PS (N=21), or AT (N=22) deficiency confirmed by molecular genetic tests (mean age: 40 years; 62 men and 25 women). The family history of the parents was available in 78 probands, and a positive VTE history was ascertained in 7 (9%). Family study was performed in both or either one of the parents in 10 probands, and 11 parents of either side (mean age: 55 years; 4 fathers and 7 mothers) were confirmed to have the same mutation as in the probands. Among them, 2 had a history of VTE (18%).
Summary
To our knowledge, this is the first study to investigate the family history of VTE in a large cohort of probands with genetically confirmed NA deficiency. The results demonstrated a low penetrance of VTE in the parents of the probands, even in genetically confirmed cases. The data suggested that the environmental factors (possibly generation-dependent) have implications for the index of suspicion in inherited thrombophilia and genetic counseling in VTE patients. A further study involving siblings of the probands is believed to better delineate the penetrance feature.
Keyword(s): Genetic, Inherited thrombophilia, Venous thromboembolism
Session topic: Publication Only
Abstract: PB2061
Type: Publication Only
Background
Inherited thrombophilia is a genetic predisposition to develop venous thromboembolism (VTE) from either deficiency of natural anticoagulants (NA) or increased procoagulant activity. Deficiencies of NA such as protein C (PC), protein S (PS) and antithrombin (AT) are relatively common in Asian populations. It has been acknowledged that the development of VTE is affected by various factors other than genetic predisposition such as environmental influences and other modifiers.
Aims
The purpose of this study was to investigate the penetrance of VTE in families with inherited thrombophilia from NA deficiency in Korea.
Methods
The authors reviewed the family history and family study results in a cohort of consecutive patients with VTE from genetically confirmed NA deficiency between January 2005 and December 2014 at a single tertiary institution in Seoul, Korea.
Results
A total of 87 probands were VTE patients with PC (N=44), PS (N=21), or AT (N=22) deficiency confirmed by molecular genetic tests (mean age: 40 years; 62 men and 25 women). The family history of the parents was available in 78 probands, and a positive VTE history was ascertained in 7 (9%). Family study was performed in both or either one of the parents in 10 probands, and 11 parents of either side (mean age: 55 years; 4 fathers and 7 mothers) were confirmed to have the same mutation as in the probands. Among them, 2 had a history of VTE (18%).
Summary
To our knowledge, this is the first study to investigate the family history of VTE in a large cohort of probands with genetically confirmed NA deficiency. The results demonstrated a low penetrance of VTE in the parents of the probands, even in genetically confirmed cases. The data suggested that the environmental factors (possibly generation-dependent) have implications for the index of suspicion in inherited thrombophilia and genetic counseling in VTE patients. A further study involving siblings of the probands is believed to better delineate the penetrance feature.
Keyword(s): Genetic, Inherited thrombophilia, Venous thromboembolism
Session topic: Publication Only
Type: Publication Only
Background
Inherited thrombophilia is a genetic predisposition to develop venous thromboembolism (VTE) from either deficiency of natural anticoagulants (NA) or increased procoagulant activity. Deficiencies of NA such as protein C (PC), protein S (PS) and antithrombin (AT) are relatively common in Asian populations. It has been acknowledged that the development of VTE is affected by various factors other than genetic predisposition such as environmental influences and other modifiers.
Aims
The purpose of this study was to investigate the penetrance of VTE in families with inherited thrombophilia from NA deficiency in Korea.
Methods
The authors reviewed the family history and family study results in a cohort of consecutive patients with VTE from genetically confirmed NA deficiency between January 2005 and December 2014 at a single tertiary institution in Seoul, Korea.
Results
A total of 87 probands were VTE patients with PC (N=44), PS (N=21), or AT (N=22) deficiency confirmed by molecular genetic tests (mean age: 40 years; 62 men and 25 women). The family history of the parents was available in 78 probands, and a positive VTE history was ascertained in 7 (9%). Family study was performed in both or either one of the parents in 10 probands, and 11 parents of either side (mean age: 55 years; 4 fathers and 7 mothers) were confirmed to have the same mutation as in the probands. Among them, 2 had a history of VTE (18%).
Summary
To our knowledge, this is the first study to investigate the family history of VTE in a large cohort of probands with genetically confirmed NA deficiency. The results demonstrated a low penetrance of VTE in the parents of the probands, even in genetically confirmed cases. The data suggested that the environmental factors (possibly generation-dependent) have implications for the index of suspicion in inherited thrombophilia and genetic counseling in VTE patients. A further study involving siblings of the probands is believed to better delineate the penetrance feature.
Keyword(s): Genetic, Inherited thrombophilia, Venous thromboembolism
Session topic: Publication Only
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