Thrombosis in congenital deficiencies of AT III, protein C or protein S: a study of 44 children.
Congenital deficiency in coagulation inhibitors is a cause of hereditary thrombotic disease. The severity of symptoms is variable and depends on the type of deficit. In this paper, 44 children suffering from deep venous thrombosis, with a mean age of 5 years, were studied. A search for Lupus anticoagulant (LA) and coagulation inhibitor deficiency showed: 3/44 cases (6.8%) had protein S deficiency, 2/44 cases (4.5%) had protein C deficiency, 1/44 cases (2.3%) had deficiencies in both protein C and S; no cases of AT III deficiency and LA was positive in 2/44 cases (4.5%). Only 1 case of APC resistance out of 13 studied was found. Four family studies were performed and confirmed the congenital origin of the disorder.
Toumi
N H
NH
Laboratoire d'Hématologie et Banque du Sang, Hôpital d'Enfants de Tunis, Bab Saadoun, Tunisie.
Khaldi
F
F
Ben Becheur
S
S
Hammou
A
A
Bouttière
B
B
Sampol
J
J
Boukef
K
K
D000293:Adolescent; D000990:Antithrombin III / Q000378:metabolism; D020152:Antithrombin III Deficiency; D019774:Blood Coagulation Factor Inhibitors / Q000172:deficiency* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016682:Lupus Coagulation Inhibitor / Q000378:metabolism; D008297:Male; D011486:Protein C / Q000378:metabolism; D020151:Protein C Deficiency; D017293:Protein S / Q000378:metabolism; D018455:Protein S Deficiency / Q000150:complications*; D013924:Thrombophlebitis / Q000209:etiology* / Q000378:metabolism
D019774:Blood Coagulation Factor Inhibitors; D016682:Lupus Coagulation Inhibitor; D011486:Protein C; D017293:Protein S; D000990:Antithrombin III