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Hereditary Hemorrhagic Telangiectasia 

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  1. 22-03-2024 | Brain Arteriovenous Malformation | Online First

    Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia

    Approximately 10% of people with hereditary hemorrhagic telangiectasia (HHT) have brain arteriovenous malformations (BAVMs) [ 1 ]. These lesions are a significant source of mortality and neurologic morbidity due to headaches, seizures, and …

  2. Open Access 04-03-2024 | Arteriovenous Fistula | Online First

    Hereditary hemorrhagic telangiectasia with hepatic arteriovenous shunt diagnosed due to liver damage

    A 53-year-old woman was diagnosed with liver dysfunction in August 20XX. Computed tomography (CT) revealed multiple hepatic AV shunts, and she was placed under observation. In March 20XX + 3, she developed back pain, and CT performed during an …

  3. Open Access 31-01-2024 | Hereditary Hemorrhagic Telangiectasia | OriginalPaper

    Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors

    Heterozygous activin receptor-like kinase 1 (ALK1) mutations are associated with two vascular diseases: hereditary hemorrhagic telangiectasia (HHT) and more rarely pulmonary arterial hypertension (PAH). Here, we aimed to understand the impact of …

  4. Open Access 01-12-2024 | Hereditary Hemorrhagic Telangiectasia | OriginalPaper

    Stereotactic radiosurgery for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia

    Brain arteriovenous malformations (AVMs) have an estimated prevalence of 18 per 100,000 adults and variable risks of morbidity (30–50%) and mortality (10–20%). [ 13 ] Multiple AVMs are less common accounting for 0.3–3.2% of all AVMs, most of the …

  5. 06-12-2023 | Hereditary Hemorrhagic Telangiectasia | News | Article

    Hereditary hemorrhagic telangiectasia increases risk for ischemic stroke

    Macroscopic pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia significantly increase the risk for ischemic stroke.

  6. 23-11-2023 | Epistaxis | ReviewPaper

    Treatments of Epistaxis in Hereditary Hemorrhagic Telangiectasia: Systematic Review and Network Meta-Analysis

    Spontaneous epistaxis is the most common symptom of Hereditary Hemorrhagic Telangiectasia (HHT), which severely affects patients' ability to work and quality of life. Current treatments range from moisturizing topical therapy to surgical …

  7. 21-08-2023 | Epistaxis | OriginalPaper

    A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominantly inherited vascular-malformation syndrome, also known as Osler–Weber–Rendu syndrome, which is characterized by recurrent epistaxis, mucocutaneous telangiectasis, and visceral …

  8. 20-06-2023 | Atrial Fibrillation | BriefCommunication

    Antithrombotic therapy for atrial fibrillation in hereditary hemorrhagic telangiectasia

    Antithrombotic therapy reduces stroke risk in patients with atrial fibrillation but at the cost of increased bleeding risk. Patients with hereditary hemorrhagic telangiectasia (HHT) are at increased bleeding risk due to fragile mucocutaneous …

  9. Open Access 01-12-2022 | Pericardiectomy | OriginalPaper

    Hemorrhagic pericardial effusion resulting in constriction in hereditary hemorrhagic telangiectasia

    Originally labeled Osler–Weber–Rendu disease after the clinicians who first described the condition, hereditary hemorrhagic telangiectasia (HHT) is characterized by the primarily-dominant, autosomal transmission of dermal, mucosal and visceral …

  10. Open Access 23-05-2023 | Arteriovenous Fistula | BriefCommunication

    Localized conditional induction of brain arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia

    Brain arteriovenous malformations (AVMs) represent a leading cause of hemorrhagic stroke in young adults [ 1 , 2 ]. The AVM angioarchitecture is complex and comprises a high-pressure, low-resistance nidus of dysplastic blood vessels prone to …

  11. Open Access 01-12-2022 | Angiography | OriginalPaper

    Retinal telangiectasia-like lesions in a 15-year-old female with Hereditary hemorrhagic telangiectasia – a case report

    Hereditary hemorrhagic telangiectasia (HHT) also known as Rendu-Osler-Weber syndrome, is an autosomal, dominantly inherited bleeding disorder [ 1 ]. HHT is characterized by the presence of vascular malformations. Nose bleeding is the most common …

  12. Open Access 04-05-2023 | SARS-CoV-2 | OriginalPaper

    Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study

    Rare Disease patients manifested high concern regarding the possible increased risk of severe outcomes and worsening of disease-specific clinical manifestation due to the impact of COVID-19. Our aim was to assess the prevalence, outcomes, and …

  13. Open Access 01-12-2022 | Tadalafile | OriginalPaper

    Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with an estimated prevalence of 1 in 5000 [ 1 ]. It is characterized by the presence of abnormalities of vascular structures and may affect many organ systems, including …

  14. Open Access 01-12-2022 | Doxycycline | OriginalPaper

    Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia

    Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease with an estimated prevalence of approximately 1 in 5000 [ 1 ]. It is characterized by vascular malformations of skin and mucous membranes of the nose and …

  15. Open Access 01-12-2022 | Hereditary Hemorrhagic Telangiectasia | OriginalPaper

    Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

    Hereditary hemorrhagic telangiectasia (HHT) is a rare but ubiquitous autosomal dominant genetic vascular disease with a prevalence of approximately 1/6000 births [ 1 ]. Also called Rendu–Osler disease in France, HHT is a pathology of angiogenesis …

  16. 01-12-2022 | Epistaxis

    A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy

    As an autosomal dominant genetic disease, hereditary hemorrhagic telangiectasia (HHT) has an estimated prevalence of 1 in 5000 individuals [ 1 , 2 ]. HHT is characterized by clinically significant malformations of the vascular system that affect …

  17. 01-02-2022 | Pazopanib | OriginalPaper

    Pazopanib for severe bleeding and transfusion-dependent anemia in hereditary hemorrhagic telangiectasia

    Hereditary hemorrhagic telangiectasia (HHT) is a rare angiogenic disorder causing chronic gastrointestinal bleeding, epistaxis, and severe anemia. Pazopanib is an oral multi-kinase angiogenesis inhibitor with promise to treat bleeding in HHT. We …

  18. Open Access 01-12-2021 | Tarry Feces | OriginalPaper

    Hereditary hemorrhagic telangiectasia with liver cirrhosis: a case report

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary hemorrhagic disease characterized by skin and/or mucosal telangiectasia and arteriovenous malformations (AVMs), with a global prevalence of at least 1/5000 [ 1 ]. The …

  19. Open Access 01-12-2021 | Anemia | OriginalPaper

    Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

    Hereditary hemorrhagic telangiectasia (HHT) is a rare dominant genetic disorder with an estimated prevalence of approximately 1 in 5000–10,000 [ 1 – 5 ], affecting children and adults, often involving multiple organs. HHT is characterized by the …

  20. 01-12-2021 | Migraine

    Cerebrovascular and cardiovascular disease burden in patients with hereditary hemorrhagic telangiectasia

    Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder resulting in abnormalities of the vascular system. This rare autosomal dominant (AD) complex disease can result in complications of …

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