Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports
© Ribeiro et al; licensee BioMed Central Ltd. 2011
Received: 21 March 2011
Accepted: 9 July 2011
Published: 9 July 2011
Paradoxical embolism due to pulmonary arteriovenous malformations is the main mechanism of brain infarction in patients with hereditary hemorrhagic telangiectasia. International Guidelines have recently been published to clarify the performance of screening tests and the effectiveness of treatment for pulmonary arteriovenous malformations.
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 . Strokes are a major complication, occurring in 10 to 19% of HHT patients . 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 . Embolization of PAVMs has proven to be a safe and effective treatment in this situation . 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 .
Patient 1: a 35-year-old man with a SMAD4 mutation
Patient 2: a 36-year-old woman with an ENG mutation
International Guidelines were published in 2009 to clarify the performance of screening tests and the effectiveness of treatment for PAVMs. The selection of PAVMs for embolization is based on feeding artery diameter, generally 3 mm or greater, though targeting PAVMs with a feeding artery diameter as low as 2 mm may be appropriate . Asymptomatic PAVMs were discovered in the first patient with an FAD less than 3 mm. He was not treated in agreement with the international recommendations. Unfortunately a stroke occurred one month later and embolization was finally performed. This confirms that a paradoxical embolism may occur when the FAD is less than 3 mm and embolization of PAVMs should always be discussed.
For patients who have PAVMs, the expert panel recommends that clinicians provide long-term follow-up, consisting of a first screening 6 to 12 months after treatment, then screenings approximately every 3 years after embolization with a multidetector thoracic CT scan, in order to detect growth of untreated PAVMs as well as reperfusion of treated PAVMs. A first screening 6 to 12 months after treatment then approximately every 3 years after embolization with a multidetector thoracic CT scan . The second patient had a past medical history of PAVMs embolized in May 2005. Regular follow-ups with respiratory functional explorations and pulmonary x-rays were performed, but they could not prevent the occurrence of stroke. This case confirms the importance of monitoring patients using the multidetector thoracic CT with thin-cut (eg.1-2 mm) reconstructions and not with other methods that appear less efficient.
Therefore, this work show first, the necessity of closely monitoring patients with HHT in accordance with the international guidelines, and second, that treatment of PAVMs with transcatheter embolotherapy should be discussed on a case by case basis no matter the size of the FAD.
Written informed consent was obtained from the patients for publication of these cases reports and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
Conflict of Interest/Disclosure
The authors declare that they have no competing interests.
List of abbreviations
Pulmonary arteriovenous malformations
Hereditary hemorrhagic telangiectasia
Magnetic resonance imaging
Deep venous thrombosis
Feeding artery diameter
We thank Meggie Chochol for editing the manuscript.
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