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[Cerebral ischemia in Rendu-Osler-Weber disease].

S Delgado Reyes1, M L García de la Rocha, V Fernández-Armayor Ajo

  • 1Servicio de Neurología, Hospital Universitario del Aire, Madrid.

Neurologia (Barcelona, Spain)
|April 19, 2000
PubMed
Summary

Hereditary hemorrhagic telangiectasia (HHT) can cause neurologic issues, often linked to pulmonary arteriovenous malformations (PAVMs). Early detection and treatment of PAVMs are crucial for preventing serious respiratory and neurological complications in HHT patients.

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Area of Science:

  • Neurology
  • Vascular Medicine
  • Genetics

Background:

  • Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, affects 8-12% of patients with neurologic manifestations.
  • Neurologic complications in HHT are primarily infectious and hemorrhagic, with ischemic events being less frequent.
  • Over half of these neurologic complications are associated with pulmonary arteriovenous malformations (PAVMs).

Observation:

  • A case report details a patient diagnosed with HHT presenting with transient ischemic attacks and a PAVM.
  • The patient's PAVM was successfully treated using embolotherapy.
  • Cerebral ischemia in HHT is linked to PAVMs and can arise from hypoxemia-induced hyperviscosity, gas embolism during coughing, or paradoxical embolism.

Findings:

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  • PAVMs are a significant risk factor for cerebral ischemia in HHT patients.
  • The mechanisms of cerebral ischemia include secondary polycythemia, gas embolism, and paradoxical embolism via PAVMs.
  • Embolotherapy proved effective in treating the PAVM and associated transient ischemic attacks.

    • Implications:

    • Early identification and management of PAVMs in HHT patients are essential.
    • Treatment of PAVMs, via embolotherapy or surgery, can prevent severe respiratory and neurologic complications.
    • This case highlights the importance of a multidisciplinary approach in managing HHT and its associated vascular abnormalities.