ReviewWiener klinische Wochenschrift2006
Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.
Review in Wiener klinische Wochenschrift, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 92 citations in OpenAlex.
- Life-threatening massive hemoptysis due to pulmonary arteriovenous malformation: An uncommon case.Radiology case reports · 2025Article
- From bench to bedside: murine models of inherited and sporadic brain arteriovenous malformations.Angiogenesis · 2025Review
- Silicone septal splint for recurrent epistaxis in HHT patients: experience of a national referral centre.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2023Article
- Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.Pediatric reports · 2023Review
- An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).International ophthalmology · 2022Review
- Clinical Assessment and Lesion-Specific Management of Orbital Vascular Malformations.Journal of neurological surgery. Part B, Skull base · 2021Article
- Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab.Orphanet journal of rare diseases · 2020Article
- Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Article
- Cerebral and spinal vascular involvement in Hereditary Hemorrhagic Telengiectasia: Report of two cases.Journal of vascular and interventional neurology · 2014Article
- Dyspnea with anemia turned out to be a case of hereditary hemorrhagic telangiectasia.Asian journal of transfusion science · 2013Article
- Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.World journal of gastroenterology · 2012Article
- Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings.The Korean journal of hepatology · 2011Article
- Genetic and pharmacological targeting of activin receptor-like kinase 1 impairs tumor growth and angiogenesis.The Journal of experimental medicine · 2010Article
- Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia.The Journal of clinical investigation · 2009Article
- Article
- Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.BMC medical genetics · 2009Article
- Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells.The Journal of biological chemistry · 2009Article
- A case of hereditary hemorrhagic telangiectasia.Annals of dermatology · 2009Article
- Hereditary hemorrhagic telangiectasia with multiple hepatic and pulmonary nodular lesions.Clinical journal of gastroenterology · 2009Article
- Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.Journal of Korean medical science · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of (muco-)cutaneous telangiectases, arteriovenous malformations with recurrent epistaxis and hemorrhages, and inheritance. A wide variety of clinical manifestations in HHT have been described. In more than 90% of the patients, nosebleeds are the first predominant symptom, therefore ENT physicians often play a key role as far as diagnosis and management of the disease are concerned. In spite of recent diagnostic and therapeutic progress, a cure for this often burdening and handicapping disease is still not available. Apart from affecting the nose, arteriovenous malformations (AVMs) may also affect the skin, lungs, brain, liver and gastrointestinal tract. The two known genes that are implicated in HHT are endoglin (ENG) located on chromosome 9q33-q34 and activin-receptor-like kinase (ALK1) located on chromosome 12q13. Mutations of ENG are observed in HHT type 1 with an incidence up to 40% for pulmonary AVMs, whereas mutations of ALK1 are observed in HHT type 2 with an incidence of only 14% for pulmonary AVMs, which clinically distinguishes these two types of mutation. The emphasis of this paper is mainly on the clinical manifestation, molecular genetics and diagnosis of HHT, taking account of current literature on HHT in order to better understand the complexity of the disease. Recent therapeutic options in the treatment of HHT have been omitted from this paper as they are subject of a following paper. HHT is more common than previously thought and shows a broad range of different clinical organ manifestations that can be sources of substantial morbidity and mortality, making HHT a continuing challenge for many sub-specialties where interdisciplinary diagnostic screening is mandatory in the management of the disease.
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.