Ischemic stroke in a young patient with protein C deficiency and prothrombin gene mutation G20210A.
We report a patient who had an ischemic stroke aged 22 years, an inherited type I protein C deficiency and a heterozygous genotype of prothrombin gene 20210A. In view of recent reports of an increased risk for ischemic cerebral vascular disease in patients with the prothrombin 20210A mutation, we suggest that many of the reported cases of ischemic stroke and protein C deficiency may have had additional prothrombotic disorders such as the prothrombin mutation. The current data concerning the magnified risk for stroke in patients with the prothrombin 20210A mutation suggests the need to study all patients with premature stroke for this mutation and the other risk factors for thrombosis. This would include homocysteine, lupus inhibitor, anticardiolipin antibodies, and possibly the natural inhibitors of coagulation. It is possible that patients with the prothrombin 20210A mutation and ischemic cerebral vascular disease would benefit from long-term anticoagulation therapy in a similar way to patients with the antiphospholipid syndrome.
Arkel
Y S
YS
Blood Disorder Center for Hemostasis and Thrombosis, Overlook Hospital, Summit, New Jersey 07902-0220, USA.
Ku
D H
DH
Gibson
D
D
Lam
X
X
D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D002545:Brain Ischemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D020151:Protein C Deficiency / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors
D000925:Anticoagulants; D011516:Prothrombin