hereditary haemorrhagic telangiectasia


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hereditary haemorrhagic telangiectasia

A rare autosomal dominant genetic disorder caused by mutations of the gene for endoglin, on chromosome 9, part of the receptor complex for transforming growth factor. The result is a disorder of the smallest blood vessels (capillaries) which become widened (dilated) and have a tendency to bleed. It presents with typical featuring characteristic lesions on the lips, face, and mouth and can also extend to the gastrointestinal tract causing anaemia and to the lungs causing HAEMOPTYSIS.
References in periodicals archive ?
Hereditary haemorrhagic telangiectasia pathophysiology, diagnosis and treatment.
The pulmonary vascular complications of hereditary haemorrhagic telangiectasia.
Seyfert, "How to manage patients with hereditary haemorrhagic telangiectasia," British Journal of Haematology, vol.
Endoglin, a TGFbeta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
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).
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.
Gastrointestinal vascular diseases include angiodysplasia, arteriovenous malformation (AVM), cavernous haemangioma, hereditary haemorrhagic telangiectasia (RenduOsler-Weber disease), Gastric antral vascular ectasia and Dieulafoy's lesion (DL) [1,2].
Most are congenital associated with hereditary haemorrhagic telangiectasia (HHT).
3%) patients include local causes, heterozygosity of inherited coagulation factor deficiency, vWD, some forms of dysfibrinogenemias, platelet function defects like release reaction abnormalities, hereditary haemorrhagic telangiectasia, allergic and other vascular purpuras, a2 antiplasmin deficiency, elevated levels of plasminogen activator, testing at inappropriate post transfusion time, high levels of one factor masking deficiency of the other and result fluctuation from time to time.
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).
Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia.

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