An unusual cause of cerebral venous sinus thrombosis: prothrombin G20210A gene mutation.
Cerebral venous sinus thrombosis represents less than 1% of all strokes, being an uncommon entity with a wide spectrum of clinical scenarios. We present a 45-year-old Hispanic female with a history of long-term oral contraceptive use who was diagnosed with cerebral venous sinus thrombosis due to a heterozygous carrier mutation in the prothrombin G20210A gene. The patient was successfully managed with intravenous heparin with favorable clinical results without adverse effects. The prevalence of inherited primary thrombophilia increases with additional risk factors such as the use of oral contraceptives that can trigger or prothrombotic events in any vascular bed. An increased prevalence in the prothrombin G20210 gene mutation has been demonstrated in the Mexican-Mestizo population. Controversy exists regarding therapy of cerebral venous sinus thrombosis; according to experts, heparin remains the cornerstone of therapy with acceptable outcomes. More clinical trials are required to evaluate long-term outcomes in this subgroup of patients.
Porres-Aguilar
Mateo
M
Department of Internal Medicine and Division of Pulmonary and Critical Care, Texas Tech University Health Sciences Center, El Paso, TX 79905, USA. mateo.porres@ttuhsc.edu
Square
Jaime H
JH
Storey
Raul
R
Rodriguez-Dunn
Simon
S
Mohamed-Aly
Mohamed S
MS
D000225:Adenine; D000925:Anticoagulants / Q000627:therapeutic use; D003278:Contraceptives, Oral, Hormonal / Q000627:therapeutic use; D005260:Female; D006580:Genetic Carrier Screening; D006147:Guanine; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D020225:Sagittal Sinus Thrombosis / Q000188:drug therapy / Q000209:etiology; D012851:Sinus Thrombosis, Intracranial / Q000188:drug therapy / Q000209:etiology*; D019851:Thrombophilia / Q000235:genetics
D000925:Anticoagulants; D003278:Contraceptives, Oral, Hormonal; D006147:Guanine; D011516:Prothrombin; D006493:Heparin; D000225:Adenine