Hereditary Hemorrhagic Telangiectasia Presenting in Early Childhood

Bross, David A.; Perez‐Atayde, Antonio R.; Mandell, Valerie S.; Hyams, Jeffrey S.; Jonas, Maureen M.

doi:10.1097/00005176-199405000-00019

Cited by 11 publications

(8 citation statements)

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“…The present case had much more extensive involvement of the liver as compared to the more focal nature described in these cases. 4,5 The present case indicates that HHT-related AVMs can cause decompensation of liver at an early age. This is contrary to the previously reported data in which 35 children with HHT were systematically screened and a relatively higher incidence of hepatic AVMs (47%) in children was reported.…”

Section: Discussionmentioning

confidence: 55%

Hereditary Hemorrhagic Telangiectasia – Early Childhood Presentation With Hepatic Failure

Hashmi

Haider

Malik

2018

J Coll Physicians Surg Pak

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Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. This defect can involve any organ system, especially lungs, brain and liver; but hepatic vascular malformations in HHT usually remain silent until fifth or sixth decade of life. However, if symptomatic, it usually results in only mild liver dysfunction in adults. Herein, we report a rare case showing extensive hepatic involvement in HHT leading to hepatic failure at a younger age. Hepatic screening is traditionally not recommended at early age while pulmonary and cerebral screening must be done. Based on this case, we recommend hepatic screening even in a young patient with HHT.

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Section: Discussionmentioning

confidence: 55%

Hereditary Hemorrhagic Telangiectasia – Early Childhood Presentation With Hepatic Failure

Hashmi

Haider

Malik

2018

J Coll Physicians Surg Pak

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“…4,[16][17][18] Reports of symptomatic hepatic vascular malformations in pediatric patients with HHT are scarce; to date, only 2 cases have been reported. 19,20 The chil-dren in both of these cases were older and differed in presentation. The first case involved a 15-year-old boy with hepatic AVMs complicated by portal hypertension without CHF.…”

Section: Discussionmentioning

confidence: 91%

Symptomatic Liver Involvement in Neonatal Hereditary Hemorrhagic Telangiectasia

et al. 2011

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High-flow hepatic vascular anomalies with arteriovenous shunting commonly manifest during the neonatal period with signs and symptoms of congestive heart failure, but to our knowledge, they have never been described in patients with hereditary hemorrhagic telangiectasia (HHT). We report here our experience with 3 patients with hepatic arteriovenous malformations (AVMs) who presented with symptoms of high-output congestive heart failure during the neonatal period and were subsequently diagnosed with HHT. Imaging showed large hypervascular lesions and multiple hepatic arteriovenous shunts that differentiated these lesions from liver hemangiomas. Transcatheter embolization was performed in all cases. One infant died of sepsis shortly after embolization; follow-up at the age of 2.5 years of the surviving infants revealed involution of the vascular lesions and no evidence of symptom recurrence. We conclude that severe symptoms related to hepatic AVMs in HHT can occur in the neonatal period and that HHT should therefore be included in the differential diagnosis of symptomatic neonatal hepatic vascular malformations. Imaging plays a key role in differentiating hepatic AVMs from hemangiomas, because the latter require additional pharmacologic treatments. Early transcatheter embolization seems to be effective, but long-term outcomes still need to be assessed.

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“…Reports of symptomatic hepatic AVMs in neonatal patients with HHT are scarce. To date, only two case reports and one case series have been published . The first patient was a 15‐year‐old boy with hepatic AVMs complicated with portal hypertension .…”

Section: Introductionmentioning

confidence: 99%

Prenatal presentation of hereditary hemorrhagic telangiectasia – a report of two sibs

et al. 2016

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What's Already Known About This Topic? There are no publications linking prenatally detected hepatic arteriovenous malformations (AVM) with the diagnosis of hereditary hemorrhagic telangiectasia (HHT). To date only one case series reported symptomatic neonatal hepatic AVMs, none of which were detected prenatally. What Does This Study Add? We report two siblings with molecularly confirmed HHT who presented with symptomatic hepatic AVMs, one of which was detected prenatally. This report suggests that prenatal or neonatal hepatic AVMs merit evaluation for HHT.

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Hereditary Hemorrhagic Telangiectasia Presenting in Early Childhood

Cited by 11 publications

References 0 publications

Hereditary Hemorrhagic Telangiectasia – Early Childhood Presentation With Hepatic Failure

Hereditary Hemorrhagic Telangiectasia – Early Childhood Presentation With Hepatic Failure

Symptomatic Liver Involvement in Neonatal Hereditary Hemorrhagic Telangiectasia

Prenatal presentation of hereditary hemorrhagic telangiectasia – a report of two sibs

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