To the Editor: Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal-dominant inherited vascular disease, characterised by the presence of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs).
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
The researchers studied a group of patients with a rare disease called hereditary haemorrhagic telangiectasia
(HHT) that often leads to enlarged blood vessels in the lungs, similar to varicose veins.
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia
They address diseases like Marfan and Goodpasture's syndromes, sarcoidosis, autoimmune pulmonary alveolar proteinosis, hereditary haemorrhagic telangiectasia
, Hermansky-Pudlak syndrome, primary ciliary dyskinesia, cystic fibrosis, scleroderma lung disease, and alpha-1 antitrypsin deficiency, and their epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnosis, conventional management and treatment strategies, and future therapies and directions.
Hereditary haemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber disease, is an autosomal dominant genetic condition that affects one in 5000 to 8000 (1).
Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.
Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
Winterbauer RH: Multiple telangiectasia, Raynaud's phenomenon, sclerodactyly, and subcutaneous calcinosis: a syndrome mimicking hereditary haemorrhagic telangiectasia
Key Words: haemoptysis, arteriovenous malformation, air embolism, hereditary haemorrhagic telangiectasia
Endoglin, a TGF-[beta] binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia