scholarly journals Inherited Antithrombin III Deficiency: A Case Report of Familial Pedigree and Gene Mutation Screening

2019 ◽  
Vol 58 (6) ◽  
pp. e379 ◽  
Author(s):  
Rongrong Zhu ◽  
Zhanjiang Cao ◽  
Weiwei Wu
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Antithrombin Iii ◽  
Mutation Screening ◽  
Antithrombin Iii Deficiency

Hereditary antithrombin III deficiency: Case report and review of recent therapeutic advances

1986 ◽  
Vol 21 (2) ◽  
pp. 215-221 ◽  
Author(s):  
Nancy Miller ◽  
Mae B. Hultin ◽  
Mohanambal Gounder ◽  
M. Hosein Zarrabi
Keyword(s):  
Case Report ◽  
Antithrombin Iii ◽  
Antithrombin Iii Deficiency

Premature Arterial Disease Associated with Familial Antithrombin III Deficiency

1990 ◽  
Vol 63 (01) ◽  
pp. 013-015 ◽  
Author(s):  
E J Johnson ◽  
C R M Prentice ◽  
L A Parapia
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Potential Risk ◽  
Antithrombin Iii ◽  
Arterial Disease ◽  
Coagulation System ◽  
Early Age ◽  
Arterial Thromboembolism ◽  
Potential Risk Factors ◽  
Antithrombin Iii Deficiency

SummaryAntithrombin III (ATIII) deficiency is one of the few known abnormalities of the coagulation system known to predispose to venous thromboembolism but its relation to arterial disease is not established. We describe two related patients with this disorder, both of whom suffered arterial thrombotic events, at an early age. Both patients had other potential risk factors, though these would normally be considered unlikely to lead to such catastrophic events at such an age. Thrombosis due to ATIII deficiency is potentially preventable, and this diagnosis should be sought more frequently in patients with arterial thromboembolism, particularly if occurring at a young age. In addition, in patients with known ATIII deficiency, other risk factors for arterial disease should be eliminated, if possible. In particular, these patients should be counselled against smoking.

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