High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia

Buscarini, Elisabetta; Danesino, Cesare; Plauchu, H; Fazio, Caterina; Olivieri, Carla; Brambilla, Gianfranco; Menozzi, Fernanda; Reduzzi, L; Blotta, P.; Gazzaniga, Pietro; Pagella, Fabio; Grosso, Maurizio; Pongiglione, Giacomo; Cappiello, Johnny; Zambelli, A.

doi:10.1016/j.ultrasmedbio.2004.08.004

Cited by 123 publications

(68 citation statements)

References 36 publications

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“…11,12 In the study by Buscarini, 2.9% of affected patients presented such hepatic nodules, according to a relatively stringent definition: presence of suggestive findings in at least two separate imaging modalities, including DS. The observed frequency (13.5%) in this series was much higher, which may reflect the use of a more simple definition (presence of compatible hepatic nodules at DS only), and the fact that a high proportion of the patients in our series (54% versus 33% in the study by Buscarini) had obvious liver involvement in HHT at DS.…”

Section: Discussionmentioning

confidence: 99%

“…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. There is also little information as to whether certain early hepatic changes are predictive of an unfavorable outcome with evolution into one of the previously described late-stage complications.…”

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

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: Discussionmentioning

confidence: 99%

Section: H Ereditary Hemorragic Telangiectasia (Hht) Is Anmentioning

confidence: 99%

Section: Prospective Screeningmentioning

confidence: 99%

See 1 more Smart Citation

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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“…These associated anomalies include congenital absence of the portal vein [35,36], inflammatory pseudotumors of the liver [37], hepatic-vein thrombosis [38], and intrahepatic arterovenous shunting [39]. FNH has occasionally been found in association with extrahepatic pathology such as cerebrovascular anomalies [40], sickle-cell anemia [41], cystic dysplasia of the kidney [35], KlippeleTrenaunay syndrome [42], cerebral meningiomas and astrocytomas [28], and hereditary hemorrhagic telangiectasia [43]. Focal nodular hyperplasia has also been described in patients with glycogen-storage disease [44] although the latter condition is much more frequently associated with hepatic adenomas.…”

Section: Associated Conditionsmentioning

confidence: 99%

Diagnosis and management of hepatic focal nodular hyperplasia

Venturi

Piscaglia

Vidili

et al. 2007

Journal of Ultrasound

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Focal nodular hyperplasia (FNH) is the second most common benign tumor of the liver, after hemangioma. It is generally found incidentally and is most common in reproductive-aged women, but it also affects males and can be diagnosed at any age. Patients are rarely symptomatic, but FNH sometimes causes epigastric or right upper quadrant pain. The main clinical task is to differentiate it from other hypervascular hepatic lesions such as hepatic adenoma, hepatocellular carcinoma, or hypervascular metastases, but invasive diagnostic procedures can generally be avoided with the appropriate use of imaging techniques. Magnetic resonance (MR) imaging is more sensitive and specific than conventional ultrasonography (US) or computed tomography (CT), but Doppler US and contrast-enhanced US (CEUS) can greatly improve the accuracy in the diagnosis of FNH. Once a correct diagnosis has been made, in most cases there is no indication for surgery, and treatment includes conservative clinical follow-up in asymptomatic patients.Sommario L'iperplasia nodosa focale (FNH) è il tumore epatico benigno più frequente dopo l'angioma. E' di solito rilevata in modo occasionale, per lo più nelle donne in età fertile, anche se si può riscontrare in entrambi i sessi e ad ogni età. I soggetti portatori raramente sono sintomatici, nonostante l'FNH possa essere causa di dolore ai quadranti addominali superiori. Nella gestione dell'FNH il problema clinico principale è rappresentato dalla difficoltà di differenziarla dalle altre lesioni epatiche ipervascolarizzate, come l'adenoma, l'epatocarcinoma o le metastasi ipervascolari, tuttavia utilizzando le opportune tecniche diagnostiche è oggi possibile evitare il ricorso ad esami invasivi. La Risonanza Magnetica (RM) ha una sensibilità e una specificità superiori rispetto a quelle dell'ecografia convenzionale e della Tomografia Assiale Computerizzata (TC) per la diagnosi di FNH. L'uso dell'angioecografia perfusionale (CEUS) e dell'eco-Doppler può tuttavia aumentare in modo significativo la confidenza diagnostica

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“…While the etiology of these lesions has not yet been clearly delineated, it has been suggested that FNH is a hyperplastic polyclonal response of normal hepatic parenchyma to localized areas of increased arterial perfusion [53]. Expectantly, FNH has been found in association with vascular disorders and malformations including hereditary hemorrhagic telangiectasia, hemihypertrophy Klippel-TrenaunayWeber syndrome, and congenital absence of the portal vein [49,[54][55][56][57].…”

Section: Focal Nodular Hyperplasiamentioning

confidence: 99%