Congenital thrombophilia among patients with venous thromboembolism.
During a 3-year period we studied 393 adult patients (382 of whom were unrelated) with a history of acute venous thromboembolism. A congenital deficiency state known to predispose to thrombosis was found in 27.2%. Of these, most were due to deficiencies of protein C (9.2%), protein S (7.6%), antithrombin III (5%) or to increased plasma PAI-1 concentration (3.1%) which, in the absence of any known factor that predisposes towards thrombosis, results in a diminished fibrinolytic activity. There was a characteristic pattern between the age of onset (mean 34 years) of thrombosis and individual protein deficiency. Thrombosis appeared spontaneously in 73% of cases with recurrence in 80%. In contrast, in the remaining unrelated patients, 138 (35.1%) in whom venous thromboembolism was secondary and occurred at a mean age of 43 years, and in the other 140 (35.6%) who suffered thromboembolism spontaneously at a later age (mean age 55), there was no permanent protein deficiency state or alteration in fibrinolytic activity and thrombosis recurrence was lower (53.6% and 20.7% respectively). Of the 393 patients, deep vein thrombosis was the most common manifestation; however, in congenital thrombophilia, thrombosis of visceral vessels and Raynaud's syndrome (6%) were also detected.
Melissari
E
E
Thrombosis Research Institute, Chelsea, London, UK.
Monte
G
G
Lindo
V S
VS
Pemberton
K D
KD
Wilson
N V
NV
Edmondson
R
R
Das
S
S
Kakkar
V V
VV
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000150:complications; D000368:Aged; D020152:Antithrombin III Deficiency; D001779:Blood Coagulation Factors / Q000032:analysis*; D001780:Blood Coagulation Tests; D004198:Disease Susceptibility / Q000097:blood / Q000151:congenital; D005260:Female; D005342:Fibrinolysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D007704:Kininogens / Q000172:deficiency; D008297:Male; D008875:Middle Aged; D010958:Plasminogen / Q000172:deficiency; D017395:Plasminogen Activator Inhibitor 1 / Q000032:analysis; D011183:Postoperative Complications / Q000097:blood; D011288:Prekallikrein / Q000172:deficiency; D020151:Protein C Deficiency; D018455:Protein S Deficiency; D011655:Pulmonary Embolism / Q000097:blood / Q000209:etiology*; D013924:Thrombophlebitis / Q000097:blood / Q000209:etiology*
D001779:Blood Coagulation Factors; D007704:Kininogens; D017395:Plasminogen Activator Inhibitor 1; D010958:Plasminogen; D011288:Prekallikrein