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  Ralf W. Baumgartner
  Published on: 13 April 2016
• Thrombophilia screen should not be routinely performed
  Joseph Kwan
  Published on: 13 April 2016

• Published on: 13 April 2016

  Authors' Reply

  • Ralf W. Baumgartner
  • Other Contributors:
    • Krassen Nedeltchev, Marcel Arnold, Heinrich P. Mattle

  Dear Editor,

  We thank J. Kwan for his interest in our article. As he mentioned, we studied 203 patients aged 16 to 45 years using a standard protocol including blood tests, CT and/or MRI, 12 lead electrocardiography, and ultrasound examination of the brain supplying arteries. Additional investigations to rule out the presence of patent foramen ovale, vasculitis, cardiac arrhythmias, cervical artery dissections, et...

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  Dear Editor,

  We thank J. Kwan for his interest in our article. As he mentioned, we studied 203 patients aged 16 to 45 years using a standard protocol including blood tests, CT and/or MRI, 12 lead electrocardiography, and ultrasound examination of the brain supplying arteries. Additional investigations to rule out the presence of patent foramen ovale, vasculitis, cardiac arrhythmias, cervical artery dissections, etc., were carried out at the discretion of the treating physician. It is our policy to investigate just in a few selected young patients for the presence thrombophilia, because of the lack of strong evidence supporting an association with ischemic stroke [1,2].

  The high prevalence of thrombophilia makes the probability of a coincidental finding high [3,4]. At least 1 thrombophilic disorder is present in approximately 10% to 15% of the white Western European population [5]. The attributable risk of stroke for the thrombophilias is likely to be low, though, it might be of clinical relevance for particular ethnic groups, type of thrombophilia, or etiological subtypes of the stroke such as thromboembolism from an area of stasis in the veins via a right-to-left shunt [6]. Given the considerable costs of the laboratory tests to investigate for thrombophilia (several hundreds of US $ or Euros) and the lack of therapeutic consequences (e.g. aspirin therapy would not be replaced by anticoagulation), we believe that there is no justification for thrombophilia screening in stroke patients. Recent studies confirm this strategy, and only factor V Leiden and prothrombin gene (20210 G/A) mutation may play a small role in a subtype of stroke [7].

  Further research is needed to evaluate the response of etiologically relevant thrombophilias to different treatment regimens. Since then, the testing for thrombophilia should be carried out on a case by case basis, after weighting the importance of all possible etiologies.

  References

  1. Bushnell CD, Goldstein LB. Diagnostic testing for coagulopathies in patients with ischemic stroke. Stroke 2000;31:3067-3078.

  2. Karttunen V, Hiltunen L, Rasi V, Et al. Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovale. Blood Coagul Fibrinolysis 2003;14:261- 268.

  3. Hankey GJ, Eikelboom JW, van Bockxmeer FM, Lofthouse E, Staples N, Baker RI. Inherited thrombophilia in ischemic stroke and its pathogenic subtypes. Stroke. 2001;32:1793-1799.

  4. Zunker P, Hohenstein C, Plendl HJ, Zeller JA, Caso V, Georgiadis D, Allardt A, Deuschl G. Activated protein-C resistance and acute ischemic stroke: relation to stroke causation and age. J Neurol 2001;248:701-704.

  5. Martinelli I. Pros and cons of thrombophilia testing: pros. J Thromb Haemost. 2003; 1: 412–413.

  6. Hankey GJ, Eikelboom JW. Editorial comment--Routine thrombophilia testing in stroke patients is unjustified. Stroke. 2003;34:1826-1827.

  7. Walker ID, Greaves M, Preston FE, Et al. Investigation and management of heritable thrombophilia. Br J Haematol 2003;114:512-528.

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  Conflict of Interest:
  None declared.

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• Published on: 13 April 2016

  Thrombophilia screen should not be routinely performed

  • Joseph Kwan, Specialist Registrar in Geriatric Medicine

  Dear Editor,

  I read with interest the article by Nedeltchev et al. [1]. Using their standard protocol, thrombophilia screen only managed to identify 2 patients with Factor V Leiden deficiency and 1 patient with Protein C deficiency. Thrombophilia is well known to cause venous thrombosis but only very rarely associated with arterial occlusive disease in adulthood. In contrast, thrombophilia is significant...

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  Dear Editor,

  I read with interest the article by Nedeltchev et al. [1]. Using their standard protocol, thrombophilia screen only managed to identify 2 patients with Factor V Leiden deficiency and 1 patient with Protein C deficiency. Thrombophilia is well known to cause venous thrombosis but only very rarely associated with arterial occlusive disease in adulthood. In contrast, thrombophilia is significantly associated with childhood strokes; one study found that 57% of paediatric stroke patients had at least one thrombophilia marker (10% had two or more markers) compared with only 15% of age-matched controls [2]. Even when thrombophilia screen is found to be positive, it does not necessarily imply causation. e.g. Factor V Leiden deficiency is present in around 10% of healthy population [3].

  This low yield is consistent with previous reports [4,5], and call into question whether thrombophilia screening should be routinely performed in unselected young stroke patients, as is the practice in many stroke centres. In general, thrombophilia screen should be considered in stroke patients who are young AND have a family history of thrombosis or have suffered recurrent strokes. Also thrombophilia screen should be considered in all paediatric stroke patients, and those with intracranial venous thrombosis. In view of the high costs associated with the screening test, a cost-effectiveness analysis may be helful in informing decision-making.

  References

  1. K Nedeltchev, et al. Ischaemic stroke in young adults: predictors of outcome and recurrence. J Neurol Neurosurg Psychiatry 2005;76:191-5.

  2. Duran R, et al. Factor V Leiden Mutation and Other Thrombophilia Markers in Childhood Ischemic Stroke. Clin Appl Thromb Hemost 2005;11:83- 8.

  3. Atasay B, et al. Factor V Leiden and prothrombin gene 20210A variant in neonatal thromboembolism and in healthy neonates and adults: a study in a single center. Pediatr Hematol Oncol 2003;20:627-34.

  4. Bushnell C, et al. Screening for hypercoagulable syndromes following stroke. Curr Atheroscler Rep 2003;5:291-8.

  5. Bushnell CD, et al. Improving patient selection for coagulopathy testing in the setting of acute ischemic stroke. Neurology 2001;57:1333-5.

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  Conflict of Interest:
  None declared.

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