Hereditary Hemorrhagic Telangiectasia: Recognizing, Screening and Treating from a Neurological Point of View

Vladev G., Sirakova K.

Abstract: The Osler-Weber-Rendu condition, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare genetic disorder affecting various areas of the human body. Two prevalent genotypes involve mutations in the endoglin gene (HHT-type 1) and the ALK-1 gene (HHT-type 2). These genetic alterations result in abnormal blood vessels, such as arteriovenous malformations (AVMs) in the liver, lungs, and brain (1) . Patients frequently experience continuous nosebleeds and gastrointestinal bleeding, leading to iron deficiency anemia. Liver and lung AVMs can lead to various clinical presentations, including portal hypertension, encephalopathy, and high-output cardiac failure in the liver, and shortness of breath, respiratory distress, and stroke events in the lungs (2). The prevalence of brain AVMs in HHT patients ranges from 10-20% (3, 4) , more frequently linked to the HHT-type 1 genotype. Symptoms include headaches, seizures, and intracranial hemorrhage (ICH). Identifying affected patients can aid in family-wide screening, resulting in improved diagnostics and patient outcomes. Neurointerventionalists play a crucial role in diagnosing and treating cerebral vascular malformations, with most of the brain AVMs being categorized as Spetzler-Martin grades I-II (5) . A comprehensive physical examination, can lead to the observation of several HHT symptoms in such patients, leading to an Osler-Weber-Rendu disease clinical diagnosis. All patients should undergo diagnostic MRI or CT scans, which would verify the presence of a brain AVMs, and subsequently be discussed for endovascular therapy.

Keywords: Hereditary hemorrhagic telangiectasia, embolization

How to Cite?: Vladev G., Sirakova K., "Hereditary Hemorrhagic Telangiectasia: Recognizing, Screening and Treating from a Neurological Point of View", Volume 12 Issue 4, April 2023, International Journal of Science and Research (IJSR), Pages: 1136-1139, https://www.ijsr.net/getabstract.php?paperid=SR23418145420, DOI: https://dx.doi.org/10.21275/SR23418145420

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