Ultrastructure and Three-Dimensional Organization of the Telangiectases of Hereditary Hemorrhagic Telangiectasia

Braverman, Irwin M.; Keh, Agnes; Jacobson, Bernard

doi:10.1111/1523-1747.ep12555569

Cited by 263 publications

(203 citation statements)

References 16 publications

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“…90,174 Acute haemorrhage may be fatal or lifechanging if the haemorrhage is sufficiently large to lead to acute haemodynamic compromise; occurs into an enclosed space such as from cerebral AVMs; or prevents essential organ function (for example pulmonary AVM bleeding compromising gas exchange). While these events can occur in HHT, much more commonly, more modest haemorrhage occurs into the relatively open spaces of the nasal cavity/nostrils/atmosphere, or gastrointestinal tract.…”

Section: 3) Haemorrhage Haemodynamics and Iron Handling Consideratmentioning

confidence: 99%

“…90 . Computer reconstruction of serial 1-2mm sections suggest that the dilated post capillary venules enlarge, connect with dilated arterioles with loss of the intervening capillary bed, and form arteriovenous communications 90 , associated with a lymphocytic perivascular cell infiltrate 90 .…”

Section: 1a) Histopathologymentioning

confidence: 99%

“…These models have employed classical null mice (described for Eng and Acvrl1 with embryonic homozygous lethality between E10.5-11.5 153,[158][159][160] ); heterozygous mice which developed variable but more HHT-specific features including nosebleeds, telangiectasia, dilated vessels and AVMs 151,[153][154][155] and in some ways represent the most appropriate model for human HHT 161 ; endothelial cell specific knock outs 162 ; and mice bearing conditional LoxP knockout alleles that for ALK-1 result in a model in which HHT-like vascular malformations occurred in a consistent and predictable manner 151 . As in man 90 , murine Blood Reviews _ HHT 2010_ Shovlin 14 AVMs display venous type wall structures, 28,153,158,159,160 and venous molecular signatures. 30,163,164 The latest data suggest that HHT mutations may be deleterious predominantly during some forms of angiogenesis, with specific effects on the stability of newly formed vascular sprouts.…”

Section: 2d) Generation Of Abnormal Vessels In Hhtmentioning

confidence: 99%

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Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

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Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects approximately 1 in 5,000 people. The abnormal vascular structures in HHT result from mutations in genes (most commonly endoglin or ACVRL1) whose protein products influence TGF-ß superfamily signalling in vascular endothelial cells. The cellular mechanisms underlying the generation of HHT telangiectasia and arteriovenous malformations are being unravelled, with recent data focussing on a defective response to angiogenic stimuli in particular settings. For affected individuals, there is often substantial morbidity due to sustained and repeated haemorrhages from telangiectasia in the nose and gut. Particular haematological clinical challenges include the management of severe iron deficiency anaemia; handling the intricate balance of antiplatelet or anticoagulants for HHT patients in whom there are often compelling clinical reasons to use such agents; and evaluation of apparently attractive experimental therapies promoted in high profile publications when guidelines and reviews are quickly superseded. There is also a need for sound screening programmes for silent arteriovenous malformations. These occur commonly in the pulmonary, cerebral, and hepatic circulations, may haemorrhage, but predominantly result in more complex pathophysiology due to consequences of defective endothelium, or shunts that bypass specific capillary beds. This review will focus on the new evidence and concepts in this complex and fascinating condition, placing these in context for both clinicians and scientists, with a particular emphasis on haematological settings. Blood Reviews _ HHT 2010_ Shovlin 3 Overview of HHTHHT, also known as Osler Weber Rendu syndrome [1][2][3] , is one of the most common disorders to be inherited as an autosomal dominant trait. Careful epidemiological studies reveal that it affects approximately 1 in 5,000 individuals, 4,5 with regional differences, 6 and isolated communities displaying higher prevalences due to founder effects. 7 8 HHT was first described as a familial disease characterised by severe recurrent nasal and gastrointestinal bleeding with associated anaemia, and visible dilated blood vessels (telangiectasia) on the lips and finger tips. The majority of HHT patients are also affected by larger arteriovenous malformations (AVMs) in the pulmonary, hepatic, cerebral, pancreatic, spinal and other circulations. 1,2,9 These features, presented in more detail within Table 1, are used as criteria to diagnose HHT. 2 The spectrum of disease within the HHT umbrella has extended beyond the telangiectatic/AVM HHT pathology delineated by the Curaçao criteria. 2 More recently recognised features include pulmonary arterial hypertension 10 ; juvenile polyposis 11 ; pulmonary hypertension in the context of high output cardiac failure secondary to hepatic AVMs, when PH may be reversible after hepatic AVM treatment [12][13][14][15][16] ; a prothrombotic state associated with elevated plasma levels of factor VIII 17 , and poten...

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Section: 3) Haemorrhage Haemodynamics and Iron Handling Consideratmentioning

confidence: 99%

Section: 1a) Histopathologymentioning

confidence: 99%

Section: 2d) Generation Of Abnormal Vessels In Hhtmentioning

confidence: 99%

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Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

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“…The perivascular lymphocytic infiltrate is still present. The vessel walls loose their elastic fibers, while the endothelial layer, the basal membrane and the smooth muscles remain intact 11 .…”

Section: Histopathologymentioning

confidence: 99%

Síndrome de Rendu-Osler-Weber: relato de caso e revisão de literatura

Juares

Dell’Aringa

Nardi

et al. 2008

Rev. Bras. Otorrinolaringol.

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Heredi tary Hemorrhagic Telangiectasia or Rendu-Osler-Weber Disease is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and rupture, causing skin and mucosa bleeding. It is of dominant autosomal inheritance, characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations and positive family history. Epistaxis is often the first and foremost manifestation. It's associated to arteriovenous malformations in several organs. There are possible hematologic, neurologic, pulmonary, dermatologic and gastrointestinal complications. Treatment is supportive and helps prevent complications. This study is a case report of a patient with this syndrome who came to the ENT Outpatient Ward of the Faculdade de Medicina de Marília; and we have done a bibliographic review of the disease's etiopathogenesis, clinical manifestations and clinical-surgical treatment options.

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“…Moreover, histologic examination reportedly can allow for differentiation between HHT and CREST syndrome 9 . In HHT, arterioles and venules communicate directly with each other in the absence of a capillary network.…”

mentioning

confidence: 99%

External cervical root resorption involving multiple maxillary teeth in a patient with hereditary hemorrhagic telangiectasia

Edwards

McVaney

2005

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, an

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Ultrastructure and Three-Dimensional Organization of the Telangiectases of Hereditary Hemorrhagic Telangiectasia

Cited by 263 publications

References 16 publications

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Síndrome de Rendu-Osler-Weber: relato de caso e revisão de literatura

External cervical root resorption involving multiple maxillary teeth in a patient with hereditary hemorrhagic telangiectasia

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