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Hereditary haemorrhagic telangiectasia.
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFEffect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial.
Angiogenesis
December 2024
Service de Génétique et centre de reference de la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Hospices Civils de Lyon, Bron, France.
Epistaxis greatly affects patients with hereditary hemorrhagic telangiectasia (HHT). Although few systemic treatment exist, nintedanib, is a good candidate thanks to its anti-angiogenic activity. Our main objective was to evaluate the efficacy of oral nintedanib on epistaxis duration in HHT patients with moderate to severe epistaxis.
View Article and Find Full Text PDFGenetic and pharmacological targeting of mTORC1 in mouse models of arteriovenous malformation expose non-cell autonomous signalling in HHT.
Angiogenesis
December 2024
Division of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, 171 77, Sweden.
Article Synopsis
- Arteriovenous malformations (AVMs) are abnormal connections between arteries and veins that negatively affect the cardiovascular system and can be caused by mutations in the endoglin gene, leading to the disease HHT1.
- Research indicates that mTORC1 signaling is activated in the retinal vasculature of HHT mouse models and is influenced by the loss of endoglin, showing a complex interaction with AVM biology.
- While inhibiting mTORC1 in endothelial cells only slightly reduced AVM severity, increasing its activity surprisingly led to less severe AVMs, suggesting a need for balanced mTORC1 signaling; total inhibition with rapamycin was the most effective treatment, raising questions about other pathways involved.
The pathogenesis, diagnostic utility and clinical relevance of cutaneous telangiectasia in systemic sclerosis.
Semin Arthritis Rheum
February 2025
Department of Rheumatology, North Bristol NHS Trust, Bristol, UK; Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK. Electronic address:
Article Synopsis
- Cutaneous telangiectasia (Tel) are dilated blood vessels in the skin and are common symptoms of systemic sclerosis (SSc), which can aid in diagnosing and classifying the disease.
- * Despite their significance, the impact of SSc-Tel on patients' body image and social interactions is often underestimated by healthcare providers.
- * The review emphasizes the need for more research on the pathogenesis, diagnostic importance, and treatment options for SSc-Tel to better support affected individuals.
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.
Fam Cancer
November 2024
A.R.G. (Argentine Rendu Study Group), Ciudad Autónoma de Buenos Aires, Argentina.
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family history of JPS.
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