Hepatic involvement in hereditary hemorrhagic telangiectasia: Clinical, radiological, and hemodynamic studies of 11 cases

Bernard, Guy; Mion, François; Henry, Luc; Plauchu, Henri; Paliard, P

doi:10.1016/0016-5085(93)90723-p

Cited by 131 publications

(96 citation statements)

References 28 publications

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“…5 Hepatic involvement in HHT has been described in several studies. 6,7 Characteristic HHT hepatic localization consists of arteriovenous shunting responsible, in severe cases, for high-output cardiac failure (fistulas between the hepatic artery and hepatic veins), ascites (fistulas between the hepatic artery and portal veins), and cholangiopathy with sepsis. Liver transplantation is the main treatment option at these advanced stages.…”

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

“…8,9 Early and advanced DS findings include (1) enlargement, increased flow velocity, and tortuosity of hepatic artery branches; (2) increased diameter and flow velocity in he-patic veins; and (3) modification of portal flow. 6,10 Computed tomography may also show very characteristic diffuse intrahepatic telangiectases and early opacification of the hepatic or portal veins indicating arteriovenous shunting. 6,11 Nodular lesions with the radiological characteristics of focal nodular hyperplasia are also frequently observed in HHT patients and have been histologically confirmed in a few cases.…”

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

“…6,10 Computed tomography may also show very characteristic diffuse intrahepatic telangiectases and early opacification of the hepatic or portal veins indicating arteriovenous shunting. 6,11 Nodular lesions with the radiological characteristics of focal nodular hyperplasia are also frequently observed in HHT patients and have been histologically confirmed in a few cases. 12,13 Little is known about either early liver manifestations and their consequences on patients' health, or the frequency of liver involvement in asymptomatic HHT mutation carriers.…”

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

“…All patients underwent a clinical examination, in search of one of the four previously described clinical signs of hepatic involvement in HHT patients 6 : audible bruit, thrill, pulsatility in the right upper quadrant, or hepatomegaly. Clinical abnormality was defined as the presence of one of these signs.…”

Section: Liver Evaluationmentioning

confidence: 99%

“…DS identified hepatic nodules compatible with FNH in 14 patients in this series (13.7 %), all of them women. The mean number of lesions per patient was 3.5 (range, [1][2][3][4][5][6][7][8][9][10][11][12], and the mean maximum diameter per patient was 49 mm (range, 10-90 mm). A nuclear magnetic resonance examination was performed in 11 cases and confirmed the presence of one or more nodule compatible with FNH in 10 cases.…”

Section: Prospective Screeningmentioning

confidence: 99%

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Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

Gincul¹,

Lesca²,

Gelas-Dore³

et al. 2008

Hepatology

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H ereditary hemorragic telangiectasia (HHT) is an autosomal dominant genetic disease driven by mutations in genes such as endoglin (ENG), activin receptor-like kinase type 1 (ACVRL1), and Smad-4, which control the transforming growth factor beta proliferation pathway. 1 HHT patients usually develop a wide range of cutaneous, mucosal, and sometimes visceral arteriovenous malformations. [2][3][4] The symptomatology is dominated by epistaxis and anemia, but potentially life-threatening visceral localizations can be present, such as pulmonary, hepatic, and cerebral vascular malformations. 5 Hepatic involvement in HHT has been described in several studies. 6,7 Characteristic HHT hepatic localization consists of arteriovenous shunting responsible, in severe cases, for high-output cardiac failure (fistulas between the hepatic artery and hepatic veins), ascites (fistulas between the hepatic artery and portal veins), and cholangiopathy with sepsis. Liver transplantation is the main treatment option at these advanced stages. Previous, mostly small series have shown Doppler sonography (DS) abnormalities in 30% to 70% of HHT patients. 8,9 Early and advanced DS findings include (1) enlargement, increased flow velocity, and tortuosity of hepatic artery branches; (2) increased diameter and flow velocity in he-

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Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

Section: Liver Evaluationmentioning

confidence: 99%

Section: Prospective Screeningmentioning

confidence: 99%

See 3 more Smart Citations

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

Gincul¹,

Lesca²,

Gelas-Dore³

et al. 2008

Hepatology

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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

Haitjema¹

1996

Arch Intern Med

113

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Genetic heterogeneity has been demonstrated, suggesting involvement of other transforming growth factor receptors. This might explain the variable clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with HHT should be investigated for presence of the disease.

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Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

et al. 2000

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HHT type 2 (HHT 2) is a multi-system vascular dysplasia caused by a mutation in the ALK-1 gene, but the phenotype has not been well defined. We report on 51 members of an HHT 2 kindred with an ALK-1 gene mutation shown to be associated with the disorder. This ALK-1 mutation was detected in 38 kindred members who were evaluated systematically for associated vascular abnormalities. Pulmonary arteriovenous malformations (AVMs) were found in 6% of those screened, cerebral AVM in 7%, hepatic AVM in 17%, and spinal AVM in 3%. We discuss these and other findings in the 38 affected kindred members, as well as findings in the 13 kindred members in whom the mutation was not detected. This study shows that pulmonary, cerebral, spinal, and hepatic AVMs can all occur in HHT 2. It also adds to the evidence suggesting that pulmonary AVMs are more common in HHT 1 than in HHT 2. We identify a higher prevalence of hepatic AVMs than previously reported in either HHT 1 or 2. This may be specific to the mutation in this kindred, but probably reflects the lack of routine screening for this manifestation. Even in this family in which all affected individuals have the same mutation, the clinical manifestations of HHT and their severity varied tremendously. Intrafamilial variation in expression of HHT is clearly significant, emphasizing the difficulty in establishing the diagnosis in individuals and in sub-typing families when DNA testing is not available.

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Hepatic involvement in hereditary hemorrhagic telangiectasia: Clinical, radiological, and hemodynamic studies of 11 cases

Cited by 131 publications

References 28 publications

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

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