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 (HHT) is a genetic disorder characterised by blood vessels that fail to develop properly; ruptured AVMs are among the most significant complications of the disorder.
Proctor, "Hereditary haemorrhagic telangiectasia: A clinical analysis," Journal of Medical Genetics, vol.
Hereditary haemorrhagic telangiectasia pathophysiology, diagnosis and treatment.
Bamford et al., "Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia," Thorax, vol.
The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J 2009;33:1186-94.
Johnson et al., "Endoglin, a TGF-[beta] binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1," Nature Genetics, vol.
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.
Plauchu et al., "Cerebral abscesses in hereditary haemorrhagic telangiectasia: a clinical and microbiological evaluation," Clinical Neurology and Neurosurgery, vol.
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).
Possible explanations for bleeding with normal coagulation profile in the remaining 1401 (76.3%) 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.

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