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Thrombophilia Testing in Patients with Cryptogenic Stroke Meera Sridharan, Eugene Scharf, Aneel Ashrani, Animesh Pardanani, Rajiv Pruthi. Mayo Clinic, Rochester, MN, USA

Abstract

Background: Despite limited evidence linking conditions assessed with standard  thrombophilia panels to stroke, thrombophilia panels are often performed for cryptogenic stroke evaluation. At Mayo Clinic one option for thrombophilia testing is a thrombophilia profile (THP) which includes assessment of APC resistance (FVL), prothrombin G20210A(PG), lupus anticoagulant (LAC), protein C, S and antithrombin. Serologic testing of antiphospholipid antibodies is not part of THP.    Objectives: Assess rates of performing THP for evaluation of cryptogenic stroke at Mayo Clinic and identify rates of positive results that alter therapy (i.e. initiation of anticoagulation).  Methods: The Get with The Guidelines (GWTG) Stroke database was used to identify patients with cryptogenic stroke evaluated at Mayo Clinic from 2019 to 2024. Only patients providing consent for research were included. The electronic medical record (EMR) was searched to identify patients undergoing THP performed as part of stroke evaluation. Results of THP, details regarding history of VTE or PFO, and use and reason for anticoagulation were extracted from the EMR. Results were analyzed descriptively.  Results: 944 unique patients with cryptogenic stroke met study criteria. Median age at time of stroke was 71 (21-100) years.  240 (25.4%) patients underwent THP.  Patients were more likely to have THP if they were older, had a PFO, or had a history of VTE (Table 1). 2 patients had first THP before first stroke due to VTE.  Of the remaining 238 patients, 81 % of profiles were performed inpatient within 2 (1-25) days of admission. Excluding elevated D-dimer and fibrinogen, 70 patients had at least one thrombophilia within THP: LAC: n=5, 2 had persistent positivity leading to a diagnosis of antiphospholipid antibody syndrome (APLS). Low antithrombin n=26 (median 73% (48-79), RR, 80 - 130 %); low protein C activity: n=13 (median 60% (32-67), RR, 70 - 150 %); low free protein S Ag n=18 (median 49 (31-63%), RR 65 - 160 %). 19 and 10 patients were heterozygous for FVL and PG, respectively. 81 patients were treated with anticoagulation within one year of THP.  Indications for anticoagulation included: atrial fibrillation (n=9), remote or recent history of VTE (n=39), thrombophilia (n=9), recurrent stroke (n=9), and other (n=15).  Of the 9 patients with thrombophilia treated with anticoagulation, 7 had a diagnosis of APLS, one had protein C deficiency, and one had protein S deficiency (table 2).   Although 70 patients had an abnormality within THP, many of the abnormalities were acquired or transient in the setting of acute CVA and/or hospital stay.  Only 4 of these abnormalities led to a change in medical management (2 APLS, one protein C deficiency and one protein S deficiency).   Conclusions: Although rates of thrombophilia within THP in patients with cryptogenic strokes were up to 29%, many abnormalities were transient and only 4/238 patients (1.7%) had results that impacted management with 50% of these being positive LAC. Of thrombophilias assessed as part of THP, the only definite arterial thrombotic risk factor is LAC in the context of APLS.  Therefore, clinical utility of THP panels in this population is low yield and should not be pursued in the hospital.

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