Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports

We present two cases of hereditary hemorrhagic telangiectasia patients of our hospital who experienced an acute stroke secondary to paradoxical embolism.These two cases show that the guidelines must be followed to prevent the occurrence of ischemic stroke in patients with hereditary hemorrhagic telangiectasia, and that although they may be adequate in most cases, there are some patients who need a more personalized approach.Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with variable penetrance and an estimated prevalence of 1/5000 [1]. Strokes are a major complication, occurring in 10 to 19% of HHT patients [2]. Paradoxical embolism due to pulmonary arteriovenous malformations (PAVMs), which are present in approximately 15-50% of patients with HHT, is the main mechanism of brain infarction [3]. Embolization of PAVMs has proven to be a safe and effective treatment in this situation [4]. We present two cases of acute ischemic stroke secondary to paradoxical embolism in HHT patients in order to discuss the performance of screening tests and the effectiveness of treatment for PAVMs published in the HHT International Guidelines in 2009 [5].In February of 2003, an abnormality was detected on a chest x-ray by an occupational physician. A thoracic CT scan showed asymptomatic PAVMs with a feeding artery diameter (FAD) of 2.4 mm (Figure 1A). One month later, the patient had sudden-onset weakness in the right hand and Wernicke aphasia which spontaneously resolved in 1 hour. The diffusion-weighted MRI showed a left temporal infarct (Figure 1B), and right apex lobe PAVMs were confirmed by pulmonary angiography. Thrombophilia work-up and venous ultrasonography were normal. Other etiologic investigations were negative and the stroke was attributed to paradoxical embolisms. Embolization of the PAVMs was successfully performed (Figure 1C) and antiplatelet therapy was started. No stroke recurrence or complications were observed during 7 years of follow-