ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia

Argyriou, Loukas; Pfitzmann, Robert; Wehner, Lore; Twelkemeyer, Stefan; Neuhaus, P.; Nayernia, Karim; Engel, Wolfgang

doi:10.1002/lt.20544

Cited by 16 publications

(23 citation statements)

References 13 publications

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“…Fur- thermore, nine out of the 10 patients who underwent hepatic transplantation in the Lyon medical center were females (unpublished data), in accordance with a recent report. 36 The penetrance of most of the clinical features of HHT is age-related, although our data suggest that the effect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: 52%

“…In our 10 years of experience in the Lyon center, 100% (n ϭ 10) of the HHT patients who underwent hepatic transplantation were found to have a mutation in ACVRL1 (unpublished data), in accordance with a recent report. 36 HAVMs are often family clustered in HHT2. When applying echodoppler screening in asymptomatic patients, the higher frequency of HAVMs in HHT2 did not achieve significance.…”

Section: Discussionmentioning

confidence: 99%

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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

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: 52%

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

204

187

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“…Mutations in the ALK-1 gene are typically present in these patients, although cases of liver VMs in HHT due to endoglin mutations have also been reported [8,9,38]. Liver VMs are detected in as many as 40-75% of patients with HHT using sensitive imaging techniques ( fig.…”

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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“…Selon le type de shunt fonctionnellement prédominant qui peut changer dans le temps [1,12], l'atteinte hépatique de la MRO peut se traduire par une insuffisance cardiaque (IC) à débit élevé qui représente la présentation clinique la plus fréquente [8,13,14], une atteinte biliaire caractérisée par des sténoses et des dilatations et/ou des kystes biliaires intra-et/ou extrahépatiques [8,[15][16][17][18][19], une encéphalopathie portosysté-mique qui est très rare [20,21], une hyperplasie nodulaire focale ou régénérative secondaire à des anomalies de perfusion hépatique qui entraînent une activité diffuse ou focale de la régénération des hépatocytes [22,23] ou une HTP comme le cas de notre patient. L'HTP secondaire à la MRO a été rapportée à notre connaissance dans la littérature chez 15 patients [8,[24][25][26][27][28][29] porteurs d'une MRO.…”

Section: Discussionunclassified

Hypertension portale et maladie de Rendu-Osler-Weber familiale

Kabbaj

Kouhen

Hamani

et al. 2009

J Afr Hepato Gastroenterol

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Introduction : La maladie de Rendu-Osler-Weber (MRO) familiale est une maladie autosomique dominante, caractérisée par la présence de télengiectasies cutanéomu-queuses et viscérales. L'atteinte hépatique de la maladie de MRO est classiquement décrite dans 8 à 31 % des cas, due à des malformations artérioveineuses pouvant entraîner dans certains cas une hypertension portale. Observation : Patient, âgé de 40 ans, aux antécédents hémorragiques familiaux et personnels, hospitalisé, en 2003, pour une anémie sévère. L'examen clinique a trouvé des conjonctives décolorées, des télengiectasies cutanéomu-queuses, une hépatosplénomégalie et un syndrome oedéma-toascitique. L'échographie abdominale a montré une hépatosplénomégalie homogène, un tronc porte perméable, un épanchement péritonéal de grande abondance et une artère hépatique dilatée avec, au doppler couleur, l'existence d'un shunt entre l'artère hépatique et la veine porte. La ponction d'ascite a retiré un liquide jaune citrin Rivalta négatif. L'endoscopie oesogastroduodénale a objectivé des varices oesophagiennes stade II du tiers inférieur de l'oesophage et des télengiectasies au niveau de D1. Le patient a été mis sous propranolol 160 mg/l et diurétiques. L'évolution était marquée par une ascite réfractaire et une anémie récidivante ayant nécessité des ponctions d'ascite évacuatrices, une albuminothérapie et des transfusions sanguines. Le patient est décédé six mois plus tard. Discussion et conclusion : Les malformations vasculaires hépatiques de la maladie de MRO sont le plus souvent asymptomatiques. Cependant, une hypertension portale comme le cas de notre patient ou des complications biliaires graves sont possibles. L'échographie doppler couleur en permet le diagnostic. La transplantation hépatique est le traitement définitif en cas d'insuffisance cardiaque, de nécrose biliaire et/ou d'hypertension portale. Mots clés Maladie de Rendu-Osler-Weber · Foie · Hypertension portale · Transplantation hépatiqueAbstract Background: Rendu-Osler-Weber disease is an autosomal dominant disease, characterized by widespread telangiectasia that can affect the skin, mucous membranes and many organs. The prevalence of liver involvement in patients with Rendu-Osler-Weber disease classically ranges from 8 to 31%, caused by vascular malformations which can be complicated by portal hypertension. Case report: M. N.Z, a 40-year-old patient with familial and personal hemorrhagic antecedents was hospitalised in 2003 for severe anaemia. The clinical examination found telangiectases in skin and mucous membranes, hepatomegaly, splenomegaly, oedema and ascites. Abdominal sonography showed a homogeneous hepatosplenomegaly, ascites and an enlarged common hepatic artery. Doppler ultrasonography showed the presence of shunting between hepatic artery and portal vein. The ascites was rivalta negative. The upper digestive endoscopy showed stage II oesophageal varices and D1 telangiectasia. The patient received propranolol 160 mg/l and a diuretic. The patient developed refractory ascites and anaemia...

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ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia

Cited by 16 publications

References 13 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

Hypertension portale et maladie de Rendu-Osler-Weber familiale

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