Focal Nodular Hyperplasia

Pinotti, Enrico; Ratti, Francesca; Cipriani, Federica; Paganelli, Michele; Catena, Marco; Finazzi, Renato; Aldrighetti, Luca

doi:10.1007/978-3-319-12985-3_12

Cited by 3 publications

(9 citation statements)

References 37 publications

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“…In general, severe liver involvement is more frequently detected in HHT2 than in HHT1 (Karlsson & Cherif, 2018). However, hepatocytes express the BMP9 protein in large quantities, and vascular malformations of the liver vascular bed have been reported secondary to protein deficiency or dysfunction (Bidart et al, 2012) (Pinotti et al, 2015). FNH is thought to arise when hepatic arterial malformations induce changes in perfusion that cause a regenerative, hyperplastic response of the normal hepatocytes.…”

Section: Discussionmentioning

confidence: 99%

“…Consequently, Patient 1 was diagnosed with focal nodular hyperplasia (FNH). FNH is a benign regenerative vascular tumor that grossly consists of a central stellate scar surrounded by aberrant arteries, draining veins, and fibrous septae forming a pseudocapsule (Pinotti et al, 2015). FNH is thought to arise when hepatic arterial malformations induce changes in perfusion that cause a regenerative, hyperplastic response of the normal hepatocytes.…”

Section: Discussionmentioning

confidence: 99%

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Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

Farhan

Yuan

Partan

et al. 2021

American J of Med Genetics Pt A

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant fibrovascular dysplasia caused by mutations in ENG, ACVRL1, and SMAD4. Increasingly, there has been an appreciation for vascular conditions with phenotypic overlap to HHT but which have distinct clinical manifestations and arise from novel or uncharacterized gene variants. This study reported on a cohort of four unrelated probands who were diagnosed with a rare form of GDF2‐related HHT5, for which only five prior cases have been described. Two patients harbored heterozygous missense variants not previously annotated as pathogenic (p.Val403Ile; p.Glu355Gln). Clinically, these patients had features resembling HHT1, including cerebrovascular involvement of their disease (first report documenting cerebral involvement of HHT5), but with earlier onset of epistaxis and a unique anatomic distribution of dermal capillary lesions that involved the upper forelimbs, trunk, and head. The other two patients harbored interstitial deletions larger than five megabases between 10q11.22 and 10q11.23 that included GDF2. To our knowledge, this is the first report detailing large genomic deletions leading to HHT5. These patients also demonstrated mucocutaneous capillary dysplasias, including intranasal vascular lesions complicated by childhood‐onset epistasis, with a number of extravascular findings related to their 10q11.21q11.23 deletion. In conclusion, patients with GDF2‐related HHT may present with a number of unique characteristics that differ from classically reported features of HHT.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

Farhan

Yuan

Partan

et al. 2021

American J of Med Genetics Pt A

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“… 1 Incidence is higher in females, with a ratio of 8:1, especially from ages between 20 to 50 years. 1 , 4 They are solitary in most cases, but are reportedly multiple in 20–30% of cases. FNH has been associated with hemangiomas in 23% of cases and less commonly associated with adenomas (3.6%).…”

Section: Epidemiologymentioning

confidence: 99%

“… 1 Use of contrast enhancement can be useful especially in conjunction with early arterial phase imaging which can reveal arterial morphology and direction of filling, and lack of venous washout. 4 A spoke-wheel filling pattern during arterial phase followed by persistent enhancement during the portal and venous phases is usually characteristic, and makes differentiation from malignant tumors easier. 1 , 24 Levovist, 1 sulfur hexafluoride or SonoVue, 24 and Definity (perflutren lipid microspheres) 25 contrast agents were utilized in prior studies to evaluate for this pattern.…”

Section: Diagnosismentioning

confidence: 99%

“…The lesion enhances on arterial phase and becomes isointense with venous and delayed phases. 1 , 4 The central scar is usually relatively hypointense during arterial phase but can become hyperintense in late phase due to persistence of contrast in the scar tissue. This pattern can also appear on CT. Use of gadoxetic acid will demonstrate an iso- or hyperintense lesion in the hepatobiliary phase given its uptake in normal hepatocytes, which makes it useful in differentiating the lesion from HCC.…”

Section: Diagnosismentioning

confidence: 99%

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Focal Nodular Hyperplasia: A Comprehensive Review with a Particular Focus on Pathogenesis and Complications

Villavicencio Kim,

2023

J Clin Transl Hepatol

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Focal nodular hyperplasia is a benign tumor of the liver that is often found incidentally with imaging. The purpose of this review is to discuss the pathophysiology, rare complications that can occur due to these lesions, and management options. A literature review was performed on clinical trials and case reports involving focal nodular hyperplasia complications and management of these, as well as the proposed pathogenesis underlying these tumors. Although exposure to oral contraceptive pills and endogenous hormones have been thought to play a role in the development of these lesions, this has not been proven. Most recently, they are thought to arise as a consequence of a vascular anomaly causing alterations in the expression of angiopoietin genes. Complications are rare, but previous cases have reported associated pain, rupture and compression of nearby structures (hepatic vein, stomach, biliary system). Resection of focal nodular hyperplasia is not usually recommended. However, if there is associated pain with no other identifiable cause or presence of a large or growing lesion with risk of causing a complication, then surgical resection, radiofrequency ablation or arterial embolization should be considered.

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Laparoscopic anatomical segment III resection for a giant focal nodular hyperplasia (FNH): advantages of the extraglissonean approach—a case report

Palacio¹,

Ventura²,

Periz³

et al. 2021

Laparosc Surg

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Focal Nodular Hyperplasia

Cited by 3 publications

References 37 publications

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

Focal Nodular Hyperplasia: A Comprehensive Review with a Particular Focus on Pathogenesis and Complications

Laparoscopic anatomical segment III resection for a giant focal nodular hyperplasia (FNH): advantages of the extraglissonean approach—a case report

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