Bleeding risk of cerebral vascular malformations in hereditary hemorrhagic telangiectasia

Willemse, R.B.; Mager, Johannes J.; Westermann, C. J. J.; Overtoom, T. T. C.; Mauser, H.W.; Wolbers, J.G.

doi:10.3171/jns.2000.92.5.0779

Cited by 157 publications

(144 citation statements)

References 44 publications

Supporting

Mentioning

138

Contrasting

Unclassified

Order By: Relevance

“…Recommendations for intensive screening programmes derived in such a healthcare culture may be neither appropriate, nor affordable, for other healthcare systems. Wide-scale screening programmes will raise these issues for high proportions of screened individuals, since cerebral vascular malformations may be present in up 22.8% of patients 212,213 , with high flow AVMs in 3.7-11% 88,212,213 . We find that even where an asymptomatic individual is in a higher risk group (having a family history of cerebral haemorrhage) for whom our group suggest MRI scans based on the advice from the late Prof Pierre Lasjaunias, 55,208 the decision to undergo this study is not straightforward.…”

Section: 2) Molecular Diagnosismentioning

confidence: 99%

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

View full text Add to dashboard Cite

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attractive experimental therapies promoted in high profile publications when guidelines and reviews are quickly superseded.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...

show abstract

Section: 2) Molecular Diagnosismentioning

confidence: 99%

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

2010

View full text Add to dashboard Cite

show abstract

“…Whether this is due to a lower rate of pulmonary and cerebral manifestations in children is unclear. To date, frequency estimates of pulmonary and cerebral AVMs are based on case reports and small series [8,24,26,27,[40][41][42][43][44][45][46][47][48][49][50][51], and the diagnostic yield of initial diagnostic screening procedures in asymptomatic children has not been systematically evaluated.…”

mentioning

confidence: 99%

Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia

Al-Saleh¹,

Mei-Zahav²,

Me³

et al. 2009

Eur Respir J

View full text Add to dashboard Cite

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterised by vascular dysplasia complicated by visceral arteriovenous malformations (AVMs). To date, the diagnostic yield of screening procedures for pulmonary and cerebral AVMs in children with definite or potential HHT is not well defined. The aim of the present study was to prospectively evaluate the diagnostic yield of a screening protocol for pulmonary and cerebral AVMs in children with either a definite or potential HHT diagnosis.All children referred for evaluation for HHT between 1996 and 2008 were included in the present analysis. Screening tests for AVMs included chest computed tomography and brain magnetic resonance imaging.61 children with a definite clinical and/or genetic diagnosis of HHT were asymptomatic for visceral AVMs at their first baseline assessment (mean¡SD age 8.7¡4.7 yrs; range 0-17.0 yrs). Of these, 15 (25%) had pulmonary and/or cerebral AVMs diagnosed on initial screening tests. Pulmonary AVMs predominated in paediatric HHT patients (14 out of 15 patients) and were found in eight children aged ,10 yrs. 55 children had a potential HHT diagnosis as they fulfilled only one or two HHT clinical diagnostic criteria and did not have a confirmatory genetic diagnosis (age 10.9¡4.8 yrs; range 0-17.9 yrs). None of these children had pulmonary or cerebral AVMs on initial screening tests.The present data suggest that children with a definite HHT diagnosis have a high frequency of pulmonary AVMs even when clinically asymptomatic. In contrast, no AVMs were observed in children not fulfilling HHT diagnostic criteria. Genetic testing appears to be useful in defining an at-risk group for pulmonary AVMs in childhood.

show abstract

“…Cerebrovascular malformations occur in 12-36% of patients with HHT, of which 4.9-11% are cerebral AVMs. 3,9,13) Intravenous DSA found cerebral AVMs in 11% of 196 patients with HHT. 13) The estimated bleeding risk of one AVM per year was 0.36-0.56%.…”

Section: Discussionmentioning

confidence: 99%

Central Nervous System Lesions Associated With Hereditary Hemorrhagic Telangiectasia -Three Case Reports-

Kuwayama

Takase

Kashihara

et al. 2003

Neurol. Med. Chir.(Tokyo)

View full text Add to dashboard Cite

Hereditary hemorrhagic telangiectasia (HHT) is easily overlooked in patients with central nervous system (CNS) lesions. Our clinical experience of three patients with CNS lesions associated with HHT stresses the importance of considering HHT. A 23-year-old male presented with consciousness disturbance and right hemiparesis. Emergency cerebral digital subtraction angiography revealed occlusion of the left middle cerebral artery and the left anterior cerebral artery. Pulmonary arteriography showed three pulmonary arteriovenous malformations (AVMs). A 62-year-old male presented with consciousness disturbance and sensory aphasia. Magnetic resonance imaging revealed a ringenhanced lesion in the left temporal lobe which was removed by left frontotemporal craniotomy. The diagnosis was brain abscess. Chest computed tomography (CT) revealed two pulmonary AVMs. A 32-year-old female presented with progressive mild weakness in her left hand. Initial CT showed subcortical hemorrhage in the right frontal lobe. Cerebral angiography revealed no vascular malformations, but chest CT disclosed five pulmonary AVMs. All three patients had a family history of HHT. The possibility of HHT is important to consider in patients with cerebrovascular disease (CVD) or brain abscess to prevent complications, not only in the patients but also their blood relatives. Therefore, the medical and family history of patients with CVD or brain abscess should be investigated and HHT should be considered during the physical examination.

show abstract

Bleeding risk of cerebral vascular malformations in hereditary hemorrhagic telangiectasia

Cited by 157 publications

References 44 publications

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia

Central Nervous System Lesions Associated With Hereditary Hemorrhagic Telangiectasia -Three Case Reports-

Contact Info

Product

Resources

About