ReviewJournal of clinical medicine2022
Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management.
Review in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05550376 (Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia), which is not on this map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia (HHT)
Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- Article
- Article
- Unmasking a Rare Genetic Puzzle: Hereditary Hemorrhagic Telangiectasia in a Black Kenyan Woman: A Case Report.Case reports in gastrointestinal medicine · 2026Article
- Epistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review.The Journal of international medical research · 2025Review
- When Cholangitis Reveals Liver Involvement in Hereditary Hemorrhagic Telangiectasia: A Case Report.Cureus · 2025Article
- Advances in Gene Therapy for Rare Diseases: Targeting Functional Haploinsufficiency Through AAV and mRNA Approaches.International journal of molecular sciences · 2025Review
- Updates on the Pathogenesis and Therapeutic Approaches for Hereditary Hemorrhagic Telangiectasia.Current vascular pharmacology · 2025Review
- Allelic dropout in the endoglin (Frontiers in genetics · 2025Article
- Catheter embolization for pulmonary arteriovenous malformations during chemotherapy for appendiceal adenocarcinoma: A case report of associated brain abscess.Radiology case reports · 2024Article
- Hereditary haemorrhagic telangiectasias with recurrent ischemic stroke hinted by manganese deposition in the basal ganglia: a case report and literature review.BMC neurology · 2024Review
- Molecular and Functional Cargo of Plasma-Derived Exosomes in Patients with Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2024Article
- The Role of Thalidomide and Its Analogs in the Treatment of Hereditary Hemorrhagic Telangiectasia: A Systematic Review.Journal of clinical medicine · 2024Review
- Ischemic cholangitis: Lethal complication of Osler-Weber-Rendu disease.Radiology case reports · 2024Article
- A rare case of spinal involvement in hereditary hemorrhagic telangiectasia.Spinal cord series and cases · 2024Article
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Hereditary Hemorrhagic Telangiectasia in a Patient Undergoing Hemodialysis with Anticoagulants and Antiplatelets.Internal medicine (Tokyo, Japan) · 2024Article
- Editorial: Advance in vascular anomalies of head and neck region: from bench to bedside.Frontiers in neurology · 2024Article
- A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension.Case reports in gastrointestinal medicine · 2024Article
- Article
- Current guidelines for diagnosis and management of hepatic involvement in hereditary hemorrhagic teleangiectasia.World journal of hepatology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. Currently, diagnosis can be made using the Curaçao criteria or by identifying the affected gene. In recent years, there has been an advance in the understanding of the pathophysiology of the disease, which has allowed the use of new therapeutic strategies to improve the quality of life of patients. This article reviews some of the main and most current evidence on the pathophysiology, clinical manifestations, diagnostic approach, screening for complications, and therapeutic options, both pharmacological and surgical.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.