Abstract
We retrospectively analyzed the records of 145 female patients ages 18 to 50 who were referred to the Thrombosis and Hemostasis Section of the Hematology-Oncology Division at Mt. Sinai Hospital from January 2000 to June 2004 for evaluation of thrombophilia as the etiology of pregnancy loss (PL).
Recurrent Pregnancy Loss (RPL) was defined as 2 or more PL in the first trimester of gestation. Women with one or more PL in the second and/or third trimester of gestation or stillbirth, or a combination of above were also analyzed.
The following thrombophilic conditions were evaluated: factor V Leiden, prothrombin gene mutation (G20210), antiphospholipid (APL) antibodies and lupus anticoagulant (LAC), homocysteine and functional levels of protein C, S and antithrombin.
Of the 145 patients, 20 were excluded from analysis for the following reasons: isolated 1 first trimester PL (15 patients), no verification of antiphospholipid antibodies (4 patients) and insuficient data (1 patient).
Of the evaluable patients, 75 (60%) had 2 or more first trimester PL, 14 (11.2%) patients had 1 or more second trimester PL, 2 (1.6%) patients had 1 or more third trimester PL and 24 (19.2%) patients had PL in different trimesters.
70 of the 125 patients (56%) were found to have a thrombophilic condition: 25 had antiphospholipid antibodies, 21 had factor V Leiden (20 heterozygous and 1 homozygous), 16 had prothrombin gene mutation (all heterozygous), 5 had protein S deficiency, 2 had homocysteine level, and 1 had protein C deficiency. We did not identify any patient with antithrombin deficiency.
Of the 75 patients with first trimester PL, 36 (48%) were found to have a thrombophilic condition: 18 (50%) had antiphospholipid antibodies, 9 (25) had factor V Leiden (1 homozygous and 8 heterozygous) (17%), 5 (13.8) had heterozygous prothrombin gene mutation (8%), 3 (8.3%) had increased homocysteine level and 3 had a low protein S level (8.3%).
In summary, we found a thrombophilic condition associated with PL in 56% in this patient population. The majority of patients had recurrent first trimester PL. The most prevalent thrombophilic disorder was the presence of antiphospholipid antibodies, followed by factor V Leiden, prothrombin gene mutation and protein S deficiency and the least common was increased homocysteine level. These results suggest that testing for thrombophilia may be warranted in women with recurrent PL.
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