[Hereditary deficiency of antithrombin III, protein C and protein S. A study of 31 patients from 8 unrelated families].
The families of eight unrelated patients were studied with regard to a hereditary deficiency in antithrombin III (ATIII), protein C, or protein S. These deficiencies were recognized in the course of investigations for deep-vein thrombosis (DVT) in the eight patients. A group of 31 individuals (patients and family members), mostly less than 40-year-old was explored. Two cases of AT III deficiency were discovered, as well as 21 of protein C deficiency, and seven of protein S. Ten of the 30 have had recurrent venous thrombosis at the time of bedrest, trauma, surgery, pregnancy, postpartum or during oral contraceptive treatment. Spontaneous DVT occurred in three cases. Seventeen patients had remained asymptomatic till then. Such patients need antithrombotic treatment during surgery or pregnancy. Prophylactic treatment with enoxaparin in one patient (deficiency in protein C) during her second pregnancy is discussed. It seems that low molecular weight heparin may be a safe alternative to unfractionated heparin. Oral anticoagulants are efficient in preventing reoccurring venous thromboembolism in patients with AT III deficiency. The questions of whether oral anticoagulants should be continued in the long-term in patients with protein C or protein S deficiency who have had a DVT, and whether asymptomatic deficient patients should be given any antithrombotic treatment outside circumstances likely to induce a DVT, remain as yet unanswered.
Lefrançois
C
C
Département d'Anesthésie, CHU Côte-de-Nacre, Caen.
Derlon
A
A
Le Querrec
A
A
Lochu
T
T
Sillard
B
B
Deshayes
J P
JP
Delassus
P
P
Bricard
H
H
D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000032:analysis; D020152:Antithrombin III Deficiency; D001778:Blood Coagulation Disorders / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D005260:Female; D006023:Glycoproteins / Q000032:analysis / Q000172:deficiency; D006495:Heparin, Low-Molecular-Weight / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011486:Protein C / Q000032:analysis; D020151:Protein C Deficiency; D013927:Thrombosis / Q000517:prevention & control; D014812:Vitamin K / Q000037:antagonists & inhibitors
D006023:Glycoproteins; D006495:Heparin, Low-Molecular-Weight; D011486:Protein C; D014812:Vitamin K; D000990:Antithrombin III
Les déficits constitutionnels en antithrombine III, protéine C et protéine S. Etude de 31 sujets appartenant à huit familles non apparentées.