Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family

Buscarini, Elisabetta; Buscarini, L; Danesino, Cesare; Piantanida, M.; Civardi, Giuseppe; Quaretti, Pietro; Rossi, Sandro; Stasi, M.; Silva, Matteo

doi:10.1016/s0168-8278(97)80017-7

Cited by 100 publications

(109 citation statements)

References 26 publications

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“…Surprisingly, the echodoppler features of liver involvement were present in 57.6% of the HHT2 group but also 43% of the HHT1 group, which is higher than previously reported. 10 These findings contrast with the small number of patients presenting with severe consequences of liver involvement, such as cardiac failure, portal hypertension and biliary necrosis, suggesting that hepatic lesions seen by echodoppler may remain silent in the majority of patients for many years, perhaps for life. 12,37 There is a need for longitudinal survey of these patients to improve our understanding of the natural history of HAVMs since their complications are lifethreatening.…”

Section: Discussionmentioning

confidence: 93%

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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Lesca

Olivieri

Burnichon³

et al. 2007

Genetics in Medicine

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204

187

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Purpose: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous (telangiectases), but also involving the lungs (PAVM), liver (HAVM) and brain (CAVM). We studied the relationship between the phenotype and genotype in patients with a proven mutation in either ENG (HHT1) or ACVRL1 (HHT2). Methods: Clinical features and their age of onset were compared between HHT1 and HHT2. The type of mutation was also analyzed. Clinical manifestations were distinguished from lesions found by screening. Results: Ninety-three HHT1 patients and 250 HHT2 patients were included. Epistaxis occurred later in HHT2, with incomplete penetrance (P Ͻ 0.0001). Symptomatic PAVMs were more frequent in HHT1 (34.4 vs. 5.2%, P Ͻ 0.001), as were cerebral abscesses (7.5 vs. 0.8%, P ϭ 0.002).Gastrointestinal bleeding occurred more frequently in HHT2 (16.4 vs. 6.5%, P ϭ 0.017). Symptomatic hepatic involvement was only seen in HHT2 patients. PAVMs were more frequently detected in asymptomatic HHT1 patients (54 vs. 12.8%, P Ͻ 0.0001). PAVMs and HAVMs were often family clustered in HHT1 and HHT2, respectively. Truncating mutations were associated with a higher frequency of epistaxis and telangiectasis, in HHT2. Conclusion: This study shows major differences between HHT1 and HHT2 phenotypes, which should be taken into account for future clinical studies. Genet Med 2007:9(1):14-22.

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Section: Discussionmentioning

confidence: 93%

“…36 The penetrance of most of the clinical features of HHT is age-related, although our data suggest that the effect of age is more pronounced for hepatic and GI involvement, that are more commonly found in older patients. 10,12 Relationship between clinical expression and gene function…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Lesca

Olivieri

Burnichon³

et al. 2007

Genetics in Medicine

Self Cite

204

187

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“…Liver VMs are detected in as many as 40-75% of patients with HHT using sensitive imaging techniques ( fig. 4) [39,40], but most are small and do not lead to symptoms. However, more significant liver VMs do cause symptoms in 5-8% of patients with HHT …”

Section: Pulmonary Hypertensionmentioning

confidence: 99%

The pulmonary vascular complications of hereditary haemorrhagic telangiectasia

Faughnan¹,

Granton²,

Young³

2009

Eur Respir J

124

116

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Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, characterised by the presence of vascular malformations. The pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high-output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT. In the present review, the authors describe the clinical presentation, diagnosis and management of all three pulmonary vascular presentations of HHT, as well as the underlying genetics and pathophysiology.

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“…14 Interestingly, patients with clinical characteristics of HHT without mutations in ENG or ALK1 have also been reported, suggesting that other genes might be linked to HHT. 15,16 In this sense, it was found that mutations in bone morphogenetic protein receptor II (BMPRII) give rise to pulmonary primary hypertension with a similar phenotype to HHT. [17][18][19] Moreover, Gallione et al 20 recently reported that mutations in MADH4 (Smad 4) can cause a syndrome consisting of both juvenile polyposis and HHT phenotypes.…”

Section: Endoglin and Alk1 Are The Genes Mutated In Hhtmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia, a Vascular Dysplasia Affecting the TGF- Signaling Pathway

Fernández-L¹,

Sanz-Rodrı́guez²,

Blanco³

et al. 2006

Clinical Medicine & Research

150

108

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Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor (TGF)-β superfamily that are essential for vascular integrity. Genetic studies in mice and humans have revealed the pivotal role of TGF-β signaling during angiogenesis. Through binding to the TGF-β type II receptor, TGF-β can activate two distinct type I receptors (ALK1 and ALK5) in endothelial cells, each one leading to opposite effects on endothelial cell proliferation and migration.The recent isolation and characterization of circulating endothelial cells from HHT patients has revealed a decreased endoglin expression, impaired ALK1-and ALK5-dependent TGF-β signaling, disorganized cytoskeleton and the failure to form cord-like structures which may lead to the fragility of small vessels with bleeding characteristic of HHT vascular dysplasia or to disrupted and abnormal angiogenesis after injuries and may explain the clinical symptoms associated with this disease.

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Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family

Cited by 100 publications

References 26 publications

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

The pulmonary vascular complications of hereditary haemorrhagic telangiectasia

Hereditary Hemorrhagic Telangiectasia, a Vascular Dysplasia Affecting the TGF- Signaling Pathway

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