2014
DOI: 10.1111/imj.12457
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Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features

Abstract: HHT is a multisystemic disorder and needs involvement of a team with experience in managing patients with HHT.

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Cited by 13 publications
(11 citation statements)
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“…Hereditary haemorrhagic telangiectasia is a rare genetically heterogeneous disease with autosomal dominant inheritance characterized by vascular malformations in mucocutaneous tissues, internal organs and the central nervous system …”
Section: Treatment Of Different Vascular Lesionsmentioning
confidence: 99%
“…Hereditary haemorrhagic telangiectasia is a rare genetically heterogeneous disease with autosomal dominant inheritance characterized by vascular malformations in mucocutaneous tissues, internal organs and the central nervous system …”
Section: Treatment Of Different Vascular Lesionsmentioning
confidence: 99%
“…We read with interest the study by Salaria et al 1 In this retrospective audit, 52 patients who had a definite diagnosis of hereditary haemorrhagic telangiectasia (HHT) as per Curacao criteria were identified, and 21 of these patients had a genetic diagnosis. The most common features found in this study were epistaxis (93%), telangectasia (95%), pulmonary arteriovenous malformations (AVM) (46%), hepatic AVM (71%) and cerebral AVM (16%).…”
mentioning
confidence: 99%
“…6 It is difficult to reconcile the absence of renal involvement in HHT with the high vascularity of the kidney and the high prevalence of extra-renal internal lesions. 6 It is difficult to reconcile the absence of renal involvement in HHT with the high vascularity of the kidney and the high prevalence of extra-renal internal lesions.…”
Section: Discussionmentioning
confidence: 99%
“…6 Sequential patients were invited to participate if they met inclusion criteria. 6 Sequential patients were invited to participate if they met inclusion criteria.…”
mentioning
confidence: 99%