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Prothrombotic mutations and ischaemic stroke at a young age in two sisters
  1. J HAAN,
  2. G G SCHOONMAN,
  3. G M TERWINDT,
  4. M D FERRARI
  1. Departments of Neurology
  2. Haemostasis and Thrombosis Research Centre
  3. Leiden University Medical Centre
  4. The Netherlands
  5. University Hospital, Utrecht
  6. Rijnland Hospital, Leiderdorp
  1. Dr J Haan, Department of Neurology, K5Q, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands. Telephone 0031 71262134; fax 0031 71248253.
  1. R M BERTINA
  1. Departments of Neurology
  2. Haemostasis and Thrombosis Research Centre
  3. Leiden University Medical Centre
  4. The Netherlands
  5. University Hospital, Utrecht
  6. Rijnland Hospital, Leiderdorp
  1. Dr J Haan, Department of Neurology, K5Q, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands. Telephone 0031 71262134; fax 0031 71248253.
  1. L J KAPPELLE
  1. Departments of Neurology
  2. Haemostasis and Thrombosis Research Centre
  3. Leiden University Medical Centre
  4. The Netherlands
  5. University Hospital, Utrecht
  6. Rijnland Hospital, Leiderdorp
  1. Dr J Haan, Department of Neurology, K5Q, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands. Telephone 0031 71262134; fax 0031 71248253.
  1. J HAAN
  1. Departments of Neurology
  2. Haemostasis and Thrombosis Research Centre
  3. Leiden University Medical Centre
  4. The Netherlands
  5. University Hospital, Utrecht
  6. Rijnland Hospital, Leiderdorp
  1. Dr J Haan, Department of Neurology, K5Q, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands. Telephone 0031 71262134; fax 0031 71248253.

https://doi.org/10.1136/jnnp.65.6.958

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    We examined two sisters who had an ischaemic stroke at 32 and 41 years respectively. One had the prothrombin 20210 G to A variant1 and mild hyperhomocysteinaemia. The other had two prothrombotic mutations: the factor V Leiden mutation2 and the prothrombin 20210 G to A variant.1 We argue that these abnormalities may have caused the strokes.

    Patient III-36 (pedigree, figure) was admitted at the age of 41 years with a left sided paresis. Her medical history was unremarkable, including the absence of migraine. Neurological examination showed a mild left sided paresis. Blood pressure was normal. She had no livedo reticularis. Brain CT showed a right sided cerebral infarct. Cardiological investigation, carotid angiography, and laboratory testing were normal, including investigation of antiphospholipid antibodies, lipid profile, fasting and post-methionine loading homocysteine concentrations, antithrombin III, protein C, and protein S. The patient was treated with aspirin and did not have arterial ischaemic disease (or venous thrombosis) until now. Resistance to activated protein C (APC) was measured as described2 and the n-APC-SR was 0.66 (normal>0.84). As expected from this value, the patient was found to be a carrier of the factor V Leiden mutation.2 Subsequently, she was also shown to be a carrier of the prothrombin …

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