[Type I antithrombin deficiency as a cause of arterial and venous thrombosis in a family with severe thrombophilia].
BACKGROUND
In rare cases of thromboembolic diseases developing in young age, venous and arterial thromboembolism can occur simultaneously.


OBJECTIVE
To detect the venous and the arterial risk factors in a severe thrombophilic family. A 47-years-old female with severe atherosclerosis and recurrent deep vein thrombosis, and 6 members of her family were analysed.


METHODS
The following haemostatic and molecular genetic investigations were performed: besides the rutin haemostatic parameters, risk factors for venous thrombembolic disease, risk factors for venous and arterial thrombosis (plasma homocysteine level, MTHFR C677T polymorphism) were determined. This panel was completed with the measurement of lipoprotein (a), von Willebrand factor, plasminogen activator inhibitor-1 antigen, serum total cholesterin, HDL cholesterin, C reactive protein and PIA2 variant. The propositus was proven to have type I antithrombin deficiency, elevated homocysteine level, homozygous MTHFR C677T polymorphism, elevated Lp(a), vWF:Ag, and PAI-1:Ag levels.


RESULTS
All family members had a combination of cardiovascular risk factors (in 4 cases elevated homocysteine level, in 3 cases elevated Lp(a), in 2 cases elevated vWF:Ag, in 4 cases increased PAI-1 level). These risk factors were combined in three cases with type I antithrombin deficiency. Despite of the presence of atherosclerotic risk factors in the family, arterial thrombotic disease could be detected only in two patients with antithrombin deficiency.


CONCLUSIONS
The results of the investigated family indicate that in case of combination of venous and arterial thromboembolic risk factors, antithrombin deficiency may contribute to the manifestation of arterial thromboembolic diseases.
Tóth
Orsolya
O
Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Orvosegészségügyi Centrum, I. Belgyógyászati Klinika, Pécs.
Dávid
Marianna
M
Habon
Tamás
T
Nagy
Agnes
A
Keszthelyi
Zsuzsanna
Z
Kovács
Norbert
N
Losonczy
Hajna
H
D000328:Adult; D002097:C-Reactive Protein / Q000378:metabolism; D002784:Cholesterol / Q000097:blood; D003545:Cysteine; D005260:Female; D005337:Fibrin / Q000172:deficiency*; D020022:Genetic Predisposition to Disease; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D010375:Pedigree; D017395:Plasminogen Activator Inhibitor 1 / Q000276:immunology; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013912:Threonine; D019851:Thrombophilia / Q000235:genetics / Q000378:metabolism*; D013927:Thrombosis / Q000097:blood / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D020246:Venous Thrombosis / Q000209:etiology; D014841:von Willebrand Factor / Q000378:metabolism
D017395:Plasminogen Activator Inhibitor 1; D014841:von Willebrand Factor; D006710:Homocysteine; D013912:Threonine; D005337:Fibrin; D002097:C-Reactive Protein; D002784:Cholesterol; D003545:Cysteine