ArticleJournal of human genetics2014
Hereditary hemorrhagic telangiectasia in Japanese patients.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 55 citations in OpenAlex.
- Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.Molecular genetics & genomic medicine · 2019Trial
- Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.European journal of human genetics : EJHG · 2026Article
- Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care.Orphanet journal of rare diseases · 2025Article
- An Splenic Artery Aneurysm and Focal Nodular Hyperplasia Associated with an Abdominal Vascular Abnormality of Hereditary Hemorrhagic Telangiectasia.Internal medicine (Tokyo, Japan) · 2024Article
- Hereditary hemorrhagic telangiectasia with hepatic arteriovenous shunt diagnosed due to liver damage.Clinical journal of gastroenterology · 2024Article
- Percutaneous embolization of pulmonary arteriovenous malformations in adult patient with Rendu-Osler-Weber: a case report.European heart journal. Case reports · 2023Article
- uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.NPJ genomic medicine · 2023Article
- Computational and Experimental Analyses for Pathogenicity Prediction ofJournal of clinical medicine · 2023Article
- Management of pulmonary arteriovenous malformations involves additional factors aside from the diameter of feeding arteries: a 3-year case-case retrospective analysis.Respiratory research · 2022Article
- A missed case of hereditary hemorrhagic telangiectasia: A case report.SAGE open medical case reports · 2022Article
- Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.BMC medical genomics · 2021Article
- Article
- Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.Clinical and experimental otorhinolaryngology · 2021Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
- The median vein of prosencephalon of Markowski: From morphology to genetics.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2020Article
- Pulmonary arteriovenous malformation exhibiting recanalization >10 years after coil embolization: Two case reports.Medicine · 2020Article
- Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations.Clinical and experimental otorhinolaryngology · 2019Article
- Recent Advances in Basic Research for Brain Arteriovenous Malformation.International journal of molecular sciences · 2019Review
- Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.Journal of human genetics · 2019Article
- A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To describe clinical presentations of hereditary hemorrhagic telangiectasia (HHT) patients in Japan. There were 80 patients (40 men and 40 women, age 2-78, mean 39.4 years old), who were either genetically verified or genetically not identifiable but clinically definite HHT patients. Clinical presentations of these HHT patients were analyzed retrospectively. Radiological examinations, which included at least brain magnetic resonance imaging and lung computed tomography, were performed when indicated. Seventy-eight patients had either endoglin (ENG) or activin A receptor type II-like 1 (ACVRL1) mutation. They were 53 HHT1 patients with ENG mutation in 27 families and 25 HHT2 patients with ACVRL1 mutation in 17 families. Two other female patients were clinically definite HHT, but genetic mutation could not be identified. Nosebleeds were noted in 53/53 (100%) HHT1 and 24/25 (96%) HHT2 patients. Telangiectases were observed in 34/53 (64%) HHT1 and 18/25 (72%) HHT2 patients. Pulmonary arteriovenous malformations (AVMs) were noted in 33/52 HHT1 (63%) and 5/25 HHT2 patients (20%). Brain AVMs were detected in 12/51 HHT1 (24%) and 1/25 HHT2 (4%) patients. Hepatic AVMs were noted in 7/29 (24%) HHT1 and 16/20 (80%) HHT2 patients. The number of HHT1 patients was roughly twice as many as that of HHT2 patients in Japan. Pulmonary and brain AVMs were predominantly observed in HHT1 while hepatic AVMs were detected in HHT2. It seemed that ethnicity and regionality had minimal roles in the clinical presentation of HHT.
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