Liver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia

doi:10.1016/0168-8278(95)80455-2

Journal of Hepatology

Volume 22, Issue 5, May 1995, Pages 586-590

https://doi.org/10.1016/0168-8278(95)80455-2 Get rights and content

Abstract

Symptomatic hepatic involvement is a rare complication of hereditary hemorrhagic telangiectasia and most commonly consists of fibrosis or cirrhosis. We describe a 33-year-old woman in whom multiple hepatic arteriovenous malformations led to high output cardiac failure and liver failure due to biliary necrosis with refractory biliary sepsis, requiring orthotopic liver transplantation. Hepatic arteriovenous malformations were the first manifestation of the disease and a similar asymptomatic hepatic tumour was subsequently detected in her 60-year-old father who also had the classical cutaneous stigmata of the syndrome. Unrecognized genetic factors may determining the clinical spectrum of hereditary haemorrhagic telangiectasis including the hepatic manifestations.

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Cited by (96)

Radiological findings in ischaemic cholangiopathy
2020, Clinical Radiology
Citation Excerpt :
Other systemic causes include: acquired immunodeficiency syndrome-related cholangiopathy, cytomegalovirus vasculitis, sickle cell disease, Kawasaki disease, systemic lupus, anti-phospholipid syndrome, hyper-eosinophilic syndrome, paroxysmal nocturnal haemoglobinuria, and sepsis.9 Hereditary haemorrhagic telangiectasia (HHT) has been associated with biliary ischaemia due to shunting and hypoxia.25,26 Atherosclerosis and cholesterol-crystal embolisation have been associated with biliary ischaemia.
Ischaemic cholangiopathy occurs as a consequence of deficient arterial blood flow to the bile duct wall. Bile duct ischaemia can lead to full-thickness necrosis, bile leakage, biloma formation, and sepsis. It is an important cause of graft failure post-orthotopic liver transplantation. In the native liver, the causes of biliary ischaemia are diverse and include vasculitis or a complication of endovascular procedures. The present review describes the pathology and radiological findings of ischaemic cholangiopathy and outlines the role of interventional radiology in its management.
Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review
2017, HPB
Citation Excerpt :
Medical treatment7 to more aggressive approach such as hepatic artery embolization or ligation, hepatectomy or liver transplantation8 have been described with heterogeneous results. The first case of liver transplantation for HHT was performed in 1985 by the Hannover group,9 but the first case reported in the English literature was published 10 years later.10 The aim of this study was to make a systematic review of the current relevant literature to evaluate the indications, timing and results of liver transplantation for patients affected by hereditary hemorrhagic telangiectasia.
To evaluate the indications, timing and results of liver transplantation in patients affected by hereditary hemorrhagic telangiectasia (HHT), by undertaking a systematic review of the current literature.
Electronic bibliographical databases were searched on MEDLINE and Pubmed according to the PRISMA criteria. A total of 58 articles were initially found, 11 have been excluded because of single center series later included in the European Liver transplant Registry (ELTR), already reported in this study. Thirty-eight articles have been excluded because they did not report specifically new cases of liver transplantation for hereditary hemorrhagic telangiectasia. Finally 9 articles were included in the analysis.
A total of 56 patients who underwent liver transplantation for HHT are present in the English literature. One additional patient is presented in this article, for a total of 57 patients worldwide. To date, the most consistent published series is the one of the ELTR, including patients from 15 liver transplantation centers in the period 1985–2003 with a mean follow-up of 69 months. Ten-year patient and graft survival is 82.5%
Liver transplantation should be considered as a radical but definitive treatment option in patients affected by HHT with liver or cardiac involvement not responsive to medical treatment.
Hereditary hemorrhagic telangiectasia
2014, Revue de Medecine Interne
La maladie de Rendu-Osler ou télangiectasie hémorragique héréditaire touche une personne sur 5000 à 8000. Cette maladie est caractérisée par la présence d’épistaxis récidivantes, de télangiectasies cutanéo-muqueuses avec un mode de transmission autosomique dominant. Les complications des malformations vasculaires cutanéo-muqueuses sont avant tout hémorragiques alors que les manifestations viscérales, pulmonaires, hépatiques ou neurologiques centrales sont liées à la présence de fistules artério-veineuses. Les trois gènes identifiés dans la maladie de Rendu-Osler (ENG, ACVRL1, MADH4) codent pour des protéines impliquées dans la voie de signalisation du TGFβ dans la cellule endothéliale, à l’origine d’une hyperprolifération endothéliale. La prise en charge des patients repose actuellement sur le dépistage de malformations artério-veineuses viscérales et des mesures symptomatiques. Pour autant, le caractère angiogénique de cette pathologie laisse entrevoir une possibilité thérapeutique intéressante par le recours à des modulateurs de l’angiogenèse.
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a development disorder of the vasculature characterized by telangiectases and arteriovenous malformations in specific locations. Among monogenic disorders, it is one of the most common, though affected individuals are widely underdiagnosed. The most common features of this disorder, nosebleeds, and telangiectases on the lips, hands, and oral mucosa are often quite subtle. Mutations in at least five genes may result in hereditary hemorrhagic telangiectasia, but mutations in two genes (ENG and ACVRL1/ALK1) account for approximately 85% of cases. Optimal management requires understanding the specific clinical patterns of these vascular malformations, especially their locations and timing during life. Therapeutic modulation of angiogenesis may be an effective therapy.
Arterial anastomosis in liver transplantation for rendu-osler-weber disease: Two case reports
2013, Transplantation Proceedings
Liver transplantation (LT) in patients with hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber, disease is a problematic procedure. In patients with hepatic involvement due to clinically significant arterovenous malformations, there is high risk of intraoperative bleeding and intra- or perioperative complications. Some surgical corrections have been proposed for venous problems, concerning the vena caval anastomosis. A common finding in HHT is arterial enlargement of the celiac trunk and of the common hepatic artery. We report 2 cases of LT in HHT where the arterial anastomosis was successfully performed using the splenic artery of the recipient, which shows less tendency for enlargement than the celiac trunk.
Liver Involvement in Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)
2012, Zakim and Boyer's Hepatology
Rendu-Osler disease with hepatic involvement: First transplant in Spain
2010, Medicina Clinica
La Enfermedad de Rendu-Osler es un desorden sistémico debido a una alteración del endotelio vascular. Su manifestación más frecuente es la epistaxis, pero las malformaciones vasculares afectan a multitud de órganos, como el hígado, donde el desarrollo de fístulas puede ocasionar un fallo cardiaco secundario debido a los grandes shunts que se generan entre las venas hepáticas y la arteria hepática. Para resolver la afectación cardiopulmonar tradicionalmente se planteaban tratamientos como la embolización o la ligadura de la arteria hepática, pero pueden ocasionar complicaciones tan graves como la necrosis o el fallo hepático.
Presentamos el caso de una mujer de 48 años seguida en nuestro hospital desde 1987 y diagnosticada de Rendu-Osler con presencia de múltiples fístulas intrahepáticas entre venas y arteria hepática, que desarrollo a lo largo de los años un cuadro de insuficiencia cardiaca progresiva que limitaba su calidad de vida.
Tras varios ingresos por empeoramiento, su disnea llegó a hacerse de reposo y su gasto cardiaco aumentó considerablemente en los diferentes controles ecocardiográficos, llegando a valores de 10,6 l/min. Esto, unido a la refractariedad de años de tratamiento médico, y a la vista de lo buenos resultados descritos en la literatura revisada, nos hizo plantearnos finalmente la realización de un trasplante hepático, que se llevó a cabo en diciembre de 2004. Tras el mismo se resolvió la situación hiperdinámica, quedando la paciente asintomática y sin datos de fallo cardiaco. Aunque en los últimos años el trasplante hepático se ha convertido en el mejor y definitivo tratamiento para estos pacientes.
Éste es el primero que se lleva a cabo en España. En la actualidad se dispone de diferentes terapias, pero las indicaciones del trasplante hepático son cada día mayores, sobre todo debido a los riesgos que entrañan las otras opciones terapéuticas. Si bien no se ha establecido cuál es el momento adecuado para llevarlo a cabo, las indicaciones más aceptadas son la insuficiencia cardiaca y la hipertensión portal que no responde a tratamiento médico.
Rendu-Osler’s disease (RO) is a rare systemic vascular disorder due to a fibrovascular dysplasia in the endothelium of vessels. Recurrent epistaxis is the main clinical manifestation, but arteriovenous malformations (AVMs) can involve many organs, including the liver. Hepatic involvement can develop refractory heart failure due to large shunts between the hepatic veins and the hepatic artery. Embolization and hepatic artery ligation have also demonstrated to reduce cardiac output in RO, but these therapeutic options have significant morbidity and complications such as necrosis or liver failure.
We report the case of a 48 years old woman diagnosed in 1987 with RO and significant hepatic involvement, with multiple fistulas between veins and hepatic artery. In the following years she developed progressive heart failure that limited her quality of life.
She was admitted on more times with heart failure and her dyspnea worsened progressively up to NYHA IV. At this time, an echocardiograph control showed an output cardiac about 10.6 l/min. On December 2004, although the medical treatment, the worsening of the patient went on, so we finally decided to conduct a liver transplant that resolved the symptoms and the hyperdynamic circulation. Despite the fact that liver transplant has become without doubt into the best treatment for these patients in the last years.
This is the first one done in Spain. There are different therapies available for these patients, but the indications for transplantation are greater each day, mainly due to the risks of the other options. Currently the stated guidelines are heart failure and portal hypertension refractory to medical treatment. So in these situations, liver transplantation should be proposed in the early stages of the disease and may be the only viable option.

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Case reportLiver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia

Abstract

Am J Med

Am J Med

Am Heart J

Am Heart J

Am J Med

Am J Obstet Gynecol

Am J Med

Am J Med

Gastroenterology

Epistaxis répétés chez un sujet proteur de petits angiomies cutanes et muqueux

Bull Soc Med Hop Paris

On a family with a form of recurring epistaxis associated with multiple telangiectases of the skin and mucous membrane

Bull Johns Hopkins Hosp

Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring hemorrhages

Lancet

Case report
Liver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia