ArticleUpsala journal of medical sciences2018
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.
Article in Upsala journal of medical sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 28 citations in OpenAlex.
- Doxycycline for epistaxis in hereditary hemorrhagic telangiectasia: genotype-stratified outcomes.Blood vessels, thrombosis & hemostasis · 2026Article
- Updates on the Pathogenesis and Therapeutic Approaches for Hereditary Hemorrhagic Telangiectasia.Current vascular pharmacology · 2025Review
- Hereditary haemorrhagic telangiectasias with recurrent ischemic stroke hinted by manganese deposition in the basal ganglia: a case report and literature review.BMC neurology · 2024Review
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Multi-organ hereditary hemorrhagic telangiectasia: A case report.World journal of clinical cases · 2023Article
- Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management.Journal of clinical medicine · 2022Review
- An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).International ophthalmology · 2022Review
- A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome.Medicina (Kaunas, Lithuania) · 2022Article
- Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia.Frontiers in cell and developmental biology · 2022Article
- Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report.Therapeutic advances in gastroenterology · 2022Article
- Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.Clinical and experimental otorhinolaryngology · 2021Article
- The role of mural cells in hemorrhage of brain arteriovenous malformation.Brain hemorrhages · 2021Article
- High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment.Orphanet journal of rare diseases · 2020Article
- Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.Molecular genetics & genomic medicine · 2020Article
- A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Overexpression of Activin Receptor-Like Kinase 1 in Endothelial Cells Suppresses Development of Arteriovenous Malformations in Mouse Models of Hereditary Hemorrhagic Telangiectasia.Circulation research · 2020Article
- High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations.Frontiers in genetics · 2020Article
- Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish PatientsBalkan medical journal · 2019Article
- Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations.Clinical and experimental otorhinolaryngology · 2019Article
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2 authors at 2 institutions in 1 country.
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Abstract
aimThe aim of this retrospective single-centre study was to evaluate whether mutations in the ENG, ACVRL1, and SMAD4 genes were associated with different phenotypes in hereditary haemorrhagic telangiectasia (HHT).
methodsThe case records of 21 HHT patients with verified mutations in ENG, ACVRL1, or SMAD4 genes were reviewed. The numbers of HHT diagnostic criteria fulfilled for the three genotypes were compared, as was the prevalence of complications such as iron deficiency anaemia, gastrointestinal haemorrhage, stroke, and cerebral abscess.
resultsOur results indicate that mutations in the ENG (HHT1), ACVRL1 (HHT2), and SMAD4 genes result in different HHT phenotypes. Epistaxis debuts earlier and may be more severe in HHT1 than in HHT2. The prevalence of pulmonary arteriovenous malformations (AVM) is higher in HHT type 1, whereas hepatic AVMs are more common in HHT2. One patient with mutations in both ENG and ACVRL1 genes was identified, as were two SMAD4-mutated patients suffering from the overlapping juvenile polyposis-HHT syndrome. Nearly one in five patients in our HHT population has been diagnosed with stroke or cerebral abscess, indicating a high prevalence of cerebral complications.
conclusionOur results showing that ENG and ACVRL1 gene mutations result in different HHT phenotypes confirm the results from other HHT centres worldwide. Cerebral complications of HHT are common, underscoring the importance of regular screening for pulmonary AVMs and early intervention against such AVMs. We have identified an HHT patient with simultaneous mutations in the ENG and ACVRL1 genes. Surprisingly, this patient has had a mild course of the disease.
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