ArticleJournal of thrombosis and haemostasis : JTH2022
A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies.
Article in Journal of thrombosis and haemostasis : JTH, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 38 citations in OpenAlex.
- KRAS-dependent glycolytic reprogramming of endothelial cells in sporadic arteriovenous malformations.EMBO molecular medicine · 2026Article
- Harnessing liquid biopsy to unveil RAS-MEK pathway somatic pathogenic variants in extracranial arterio-venous malformations.Communications medicine · 2025Article
- Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia.American journal of hematology · 2025Article
- Endoscopic resection for verrucous venous malformation and capillary arteriovenous malformation: a deep approach to superficial lesions.Frontiers in surgery · 2025Article
- Liver transplantation for hepatocellular carcinoma in a patient with hereditary hemorrhagic telangiectasia: a case report.Frontiers in surgery · 2025Article
- Targeted medical therapies for vascular anomalies.Hematology. American Society of Hematology. Education Program · 2024Review
- Mucocutaneous toxicities from MEK inhibitors: a scoping review of the literature.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2024Article
- Hereditary hemorrhagic telangiectasia may be the most morbid inherited bleeding disorder in women.Blood advances · 2024Observational
- Defining the Role of Oral Pathway Inhibitors as Targeted Therapeutics in Arteriovenous Malformation Care.Biomedicines · 2024Review
- Article
- Hereditary hemorrhagic telangiectasia involving portal venous system: A case report and review of the literature.World journal of gastrointestinal surgery · 2023Article
- Arteriovenous malformation Map2k1 mutation affects vasculogenesis.Scientific reports · 2023Article
- Hereditary Hemorrhagic Telangiectasia With Multiple Ear, Nose, and Throat (ENT) Manifestations: A Case Report.Cureus · 2023Article
- Anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia: A scoping review.Thrombosis research · 2023Article
- Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies.Orphanet journal of rare diseases · 2023Article
- Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia.Journal of thrombosis and haemostasis : JTH · 2023Observational
- Case Report: Reversible Hyperglycemia Following Rapamycin Treatment for Atypical Choroid Plexus Papilloma in an Infant.Frontiers in endocrinology · 2022Article
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2 authors at 1 institution in 1 country.
Funding
Abstract
Vascular anomalies represent a diverse group of disorders classified broadly as malformations or tumors and include the second most common hereditary bleeding disorder worldwide, hereditary hemorrhagic telangiectasia (HHT). Patients with HHT and other vascular anomalies suffer morbid consequences of these diseases, including bleeding, thrombosis, anemia, localized intravascular coagulation, tissue overgrowth, infections, and other complications. The International Society for the Study of Vascular Anomalies (ISSVA) has developed a standard classification of these disorders, creating a uniform approach to their diagnosis, and the treatments for vascular anomalies are rapidly evolving. Recent discoveries have elucidated the molecular basis of a number of common and uncommon vascular anomalies. HHT occurs due to mutations in the transforming growth factor beta (TGF-β) pathway, resulting in vascular endothelial growth factor excess. Complex vascular anomalies including Klippel-Trénaunay syndrome (KTS) and arteriovenous malformation (AVM) may occur due to mutations in the PI3K/AKT/mTOR and RAS/MAPK/MEK pathways. The discovery of the pathophysiologic mechanisms driving these diseases has led to improved phenotype-genotype correlation and the opportunity to target molecular pathways with medical therapies. Therefore, targeted agents have quickly become a standard of care in the treatment of vascular disorders (particularly HHT). Herein, we provide a case-based approach to the use of antiangiogenic therapies including bevacizumab and pazopanib for the treatment of bleeding in HHT and the use of mammalian target of rapamycin (sirolimus), PIK3CA (alpelisib), and MEK (trametinib) inhibitors in the treatment of complex vascular anomalies.
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