Symptomatic Liver Involvement in Neonatal Hereditary Hemorrhagic Telangiectasia

Abstract

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.

Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia

“…Recurrent, spontaneous epistaxis has been reported in 66% of pediatric HHT patients and 96% of adult HHT patients . Despite this, most reports to date on the pediatric HHT population have focused on solid organ AVMs . Reports of epistaxis onset in childhood have largely relied on recall of adult patients, and there are no reports to date of epistaxis severity in the pediatric HHT population.…”

“…Severe complications of cerebral, hepatic, and pulmonary AVMs can occur in pediatric patients and are often not proceeded by presentation of mucocutaneous telangiectasia or epistaxis . Early detection of patients with HHT allows for solid organ screening for AVMs and treatment to avoid potentially catastrophic complications.…”

Hereditary Hemorrhagic Telangiectasia – Early Childhood Presentation With Hepatic Failure

“…9 Around 20% cases with HHT have no family history. 8 HHT with early and extensive liver involvement in pediatric age group is not reported in our literature. However, it is reported in an adult where liver was Syeda Shaheera Hashmi, Nighat Haider and Munir Iqbal Malik…”

“…Single-embolization procedure resulted in immediate improvement in the condition of the two surviving infants and eventually involution of AVMs in both cases. 8 This reflects on the congenital origin of hepatic AVMs that can manifest as early as first day of life and probably have better outcome in case of earlier intervention.…”

Hereditary hemorrhagic teleangiectasia: the topical problems of diagnostics and surgical treatment

“…Печеночные АВМ наблюдаются у 40-75% пациен тов с НГТ [42,43]. Однако только у 8% они бывают симптоматическими [44,45]. Печеночные АВМ в 2-4,5 раза чаще наблюдаются у женщин, чем у мужчин, и их количество увеличивается с возрас том [10,44].…”