ArticleJournal of medical genetics2003
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 176 citations in OpenAlex.
- A Study on the Clinical Phenotypes and Genetic Analysis ofHuman mutation · 2026Article
- What's new in hereditary hemorrhagic telangiectasia?Hematology. American Society of Hematology. Education Program · 2025Review
- Article
- A diagnostic approach to neurocutaneous syndromes.Arquivos de neuro-psiquiatria · 2025Review
- Obstructive airway disorders affecting individuals with hereditary hemorrhagic telangiectasia: A database review.PloS one · 2025Article
- Arterial Spin-Labeling MR Imaging in the Detection of Intracranial Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia.AJNR. American journal of neuroradiology · 2024Article
- Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-Human mutation · 2024Article
- AThe Journal of international medical research · 2023Article
- Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.Pediatric reports · 2023Review
- Management of epistaxis in hereditary haemorrhagic telangiectasia (HHT) patients using pulsed dye laser and the effect of withholding treatment during the COVID pandemic.Lasers in medical science · 2022Article
- Article
- A novel endoglin mutation in a family with hereditary hemorrhagic telangiectasia: a case report.Translational pediatrics · 2021Article
- Tamoxifen Therapy for Recurrent Mucosal Bleeding in Hereditary Hemorrhagic Telangiectasia.Journal of hematology · 2021Article
- Genetic syndromes with vascular malformations - update on molecular background and diagnostics.Archives of medical science : AMS · 2021Article
- Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2020Article
- Genotype-Phenotype Correlations in Children with HHT.Journal of clinical medicine · 2020Article
- Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding.Orphanet journal of rare diseases · 2020Article
- Recognizing genetic disease: A key aspect of pediatric pulmonary care.Pediatric pulmonology · 2020Review
- Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.Orphanet journal of rare diseases · 2020Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
backgroundHereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterised by mucocutaneous telangiectasis, epistaxis, gastrointestinal haemorrhage, and arteriovenous malformations in the lung and brain. Causative mutations for HHT have been identified in two genes, endoglin and ALK1, which encode proteins involved in serine-threonine kinase signalling in the endothelial cell.
methodsA number of people affected with HHT had completed a postal questionnaire as part of an international study to delineate the HHT phenotype. We identified questionnaires completed by subjects in whom we had identified a mutation in endoglin or ALK1. Further questionnaires were sent to families with known mutations. Data were only included from questionnaires returned by people known to carry disease causing mutations.
resultsQuestionnaires were completed by 83 subjects with known mutations. Of these, 49 had endoglin mutations (HHT1) and 34 had ALK1 mutations (HHT2). Subjects with HHT1 reported an earlier onset of epistaxis (p=0.01) and telangiectasis (p=0.0001) than those with HHT2. Pulmonary arteriovenous malformations were only reported in the endoglin mutation group in our study (p<0.001).
conclusionsOur questionnaire based study provides evidence that the HHT phenotype caused by mutations in endoglin (HHT1) is distinct from, and more severe than, HHT caused by mutations in ALK1 (HHT2). This has significant implications for diagnosis, screening, and treatment in the two different forms of HHT, as well as for understanding the pathogenesis of the disease.
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