Transjugular intrahepatic portosystemic shunt for variceal bleeding due to hereditary hemorrhagic telangiectasia with cirrhosis: A case report

Abstract

BACKGROUND

The co-occurrence of hereditary hemorrhagic telangiectasia (HHT) and hepatitis C cirrhosis represents an exceptionally rare clinical entity, which can pose a diagnostic and therapeutic challenge.

CASE SUMMARY

We reported a patient with portal hypertension-induced esophageal and gastric variceal rupture due to HHT-hepatic arterioportal fistula and hepatitis C cirrhosis. Computed tomography confirmed hepatic diffuse arteriovenous fistula. Following initial embolization of arterioportal fistula, persistent gastrointestinal bleeding recurred, indicating suboptimal embolization efficacy. Subsequent transjugular intrahepatic portosystemic shunt (TIPS) treatment was performed and resulted in significant portal hypertension reduction. Endoscopic evaluation demonstrated marked improvement in esophageal and gastric varices, achieving remarkable therapeutic outcomes.

CONCLUSION

TIPS is an effective treatment option for esophageal and gastric variceal bleeding secondary to portal hypertension in patients with both HHT and liver cirrhosis.

Key Words: Transjugular intrahepatic portosystemic shunt; Hereditary hemorrhagic telangiectasia; Hepatic arterioportal fistula; Portal hypertension; Variceal bleeding; Case report

Core Tip: Interventional embolization remains the first-line treatment for hepatic arterioportal fistula. However, when embolization fails to achieve hemostasis, transjugular intrahepatic portosystemic shunt (TIPS) may serve as an alternative therapeutic strategy. Herein, we report a female patient with liver cirrhosis and hereditary hemorrhagic telangiectasia who presented with recurrent bleeding and was successfully managed with TIPS.

INTRODUCTION

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary vascular disease with a prevalence of approximately 1 in 5000. Small arteriovenous malformations are the hallmark of HHT[1]. Hepatic arterioportal fistula (HAPF), a common type of vascular malformation in present case, leads to variceal bleeding due to portal hypertension. Transcatheter embolization of diffuse arterioportal fistulas is ineffective in treating such conditions, thus necessitating the exploration of more effective treatment options. This case report successfully treated a patient with hepatitis C cirrhosis and HHT complicated by HAPF and variceal bleeding using the transjugular intrahepatic portosystemic shunt (TIPS) method, which has rarely been reported before. The aim of this report is to provide more references and options for the treatment of patients with decompensated liver cirrhosis and HHT HAPF.

CASE PRESENTATION

Chief complaints

A 61-year-old female was admitted, presenting with a three-month history of abdominal distension and a one-month history of melaena.

History of present illness

Three months prior to admission, the patient developed unexplained abdominal distension, which persisted despite initial management at a local hospital. One month before admission, her condition evolved to include three episodes of melaena and two episodes of hematemesis with blood clots, accompanied by symptoms of dizziness and fatigue. Subsequent comprehensive evaluation at local hospital revealed a positive hepatitis C cirrhosis antibody result. And the patient received anti hepatitis C virus treatment. Gastroscopy revealed esophagogastric varices (severe RC+), and chronic non-atrophic gastritis with erosion (Figure 1).

Figure 1 Gastroscopy revealed esophagogastric varices (severe RC+), and chronic non-atrophic gastritis with erosion. A: Severe esophageal varices; B: Severe gastric varices.

History of past illness

The patient had no history of past illness.

Personal and family history

No family history of chronic hepatic disease was elicited.

Physical examination

On examination, the patient was conscious with an anemic complexion. Cutaneous telangiectasias were visible on the hands, and the tongue mucosa exhibited similar vascular lesions. Cardiopulmonary auscultation revealed clear lung fields and a regular heart rhythm without murmurs. Abdominal examination revealed no obvious positive signs.

Laboratory examinations

Blood routine revealed platelet count 123 × 10⁹, hemoglobin concentration 99 g/L, red blood cell count: 3.40 × 10¹²/L. liver function was basically normal with Child-Pugh grade A. Serological testing for hepatitis and autoimmune antibodies yielded negative results. The quantitative detection of hepatitis C virus RNA was negative.

Imaging examinations

Contrast-enhanced computed tomography (CT) portal angiography revealed: (1) Early enhancement of the main and left/right branches of the portal vein in hepatic arterial-phase, suggesting possible arterioportal fistula; and (2) Liver cirrhosis and splenomegaly with diameter of portal vein being 1.5 cm. Small low-density shadows at the edge of the main portal vein, suspected embolism; left branch portal vein narrowed with spongiform degeneration and multiple collateral circulation formation (Figure 2).

Figure 2 Contrast-enhanced computed tomography. A: Liver cirrhosis and splenomegaly, arterial phase imaging of the main and left/right branches of the portal vein; B: Small low-density shadows at the edge of the main portal vein and diameter of portal vein 1.5 cm; C and D: Left branch portal vein narrowed with spongiform degeneration and multiple collateral circulation formation.

FINAL DIAGNOSIS

Based on the above results, the patient was diagnosed with diffuse intrahepatic arterioportal fistula, portal hypertension and cavernous transformation of the portal vein. Further history taking revealed a long-standing but previously unaddressed history of recurrent spontaneous nosebleeds. Taking into account the patient’s symptoms of telangiectasia of hand skin and tongue mucosa, the diagnosis of HHT is strongly considered. Based on the clinical profile, the cirrhosis was attributed to chronic hepatitis C virus infection. But the CT examination showed that liver cirrhosis and splenomegaly.

TREATMENT

Variceal bleeding was therefore deemed secondary to both liver cirrhosis and high-flow arterioportal fistula. Then, the patient was treated with hepatic partial arterioportal fistula embolization under digital subtraction angiography (Figure 3A and B). However, melaena recurred two days post-operatively, suggesting persistent portal hypertension secondary to multiple fistulas even after embolization. Following comprehensive multidisciplinary evaluation and informed consent from the patient, a TIPS procedure was indicated. Intraoperatively, the portal pressure gradient was measured at 37 mmHg. Under angiographic guidance, coil embolization of a dilated gastric coronary vein was performed, followed by successful deployment of a VIATORR covered stent. Postoperative angiography verified optimal stent positioning and dilation (Figure 3C and D). Subsequent pressure monitoring showed portal pressure gradient 15 mmHg.

Figure 3 Hepatic artery angiography. A: Diffuse intrahepatic arterioportal fistula before embolization; B: Partial disappearance of arteriovenous fistula after embolization; C and D: Transjugular intrahepatic portosystemic shunt procedure with placement of VIATORR stent and embolization of gastric coronary vein.

OUTCOME AND FOLLOW-UP

One month postoperatively, endoscopic follow-up revealed complete resolution of esophageal varices (Figure 4). No postoperative complications including elevated blood ammonia levels or hepatic encephalopathy were observed during subsequent approximately 5-month follow-up.

Figure 4 Gastroscopy showed esophagogastric varices improved. A: No significant esophageal varices; B: No significant gastric varices.

DISCUSSION

HHT, also known as Osler-Weber-Rendu syndrome, typically presents with arteriovenous malformations in organs such as the brain, lungs, gastrointestinal tract, and liver, manifesting as epistaxis, gastrointestinal bleeding, iron-deficiency anemia, and characteristic mucocutaneous telangiectasias[2,3]. And loss-of-function mutations in bone morphogenetic protein 9-10/ENG/ALK1/SMAD4 pathway were supposed to be the cause[4]. Based on the diagnostic criteria of HHT[5] and clinical manifestations of the patient, a definitive diagnosis of HHT is supported. Studies indicate that complications such as chronic gastrointestinal bleeding, anemia, symptomatic hepatic arteriovenous malformations, and neurological disorders (stroke, brain abscess) significantly increase mortality rates in HHT patients[5,6]. Therefore, proactive management of these complications is crucial for reducing mortality risks[1]. In HHT patients, hepatic arteriovenous malformations account for over 30%, while gastrointestinal bleeding occurs in approximately 15% of cases. HAPF was first reported approximately five decades ago by Gryboski and Clemett[7], however, its underlying etiology remains largely elusive. It refers to abnormal communications between branch of hepatic artery and portal venous radicle, often accompanied by vascular lesions at the fistula site or systemic hemodynamic changes, which is a rare cause of portal hypertension[8]. These fistulas can be classified as congenital or acquired. Congenital HAPFs are associated with genetic disorders, congenital arteriovenous malformations, and hemangiomas, typically presenting as diffuse intrahepatic fistulas. Acquired HAPFs result from cirrhosis, liver cancer, trauma, iatrogenic procedures like percutaneous liver biopsy, TIPS or surgical interventions, with liver cancer being the most common cause[9,10]. Most of HAPF are asymptomatic and would close spontaneously[11]. However, persistent or extensive HAPF can cause portal hypertension resulting in variceal bleeding, which are exceedingly rare phenomenon. The primary treatment goal is to occlude the fistula-feeding vessel, thereby reducing the elevated portal venous flow. Embolization can be achieved using various agents, detachable balloons, or liquid embolic agents. If endovascular treatment fails to control variceal bleeding, alternative interventions are recommended. The challenges of managing high-flow arterioportal fistulas are further highlighted by recent literature, such as Citone et al[12], who advocate for a ‘hepatic barrage’ or combined interventional approach when initial embolization fails to sufficiently reduce the portal pressure gradient. For diffuse or multiple HAPF especially, the therapeutic outcomes treated with fistula embolization are often suboptimal, necessitating a multimodal approach, such as surgical ligation of hepatic artery, partial hepatectomy and liver transplantation[13]. In our case, the patient’s extensive HAPF fistula was only partially occluded by transarterial embolization, resulting in persistent partial arterioportal shunting and portal hypertension. Therefore, melaena appeared again on the second day after embolization, indicating embolization is not sufficient. Variceal bleeding is a life-threatening sequela of portal hypertension, which arises through two primary mechanisms: An increase in intrahepatic vascular resistance or an increase in portal blood flow[14,15]. In present case, the pathophysiology involves the direct shunting of high-pressure hepatic arterial blood into the portal venous circulation, bypassing the hepatic sinusoids. This aberrant flow dynamic creates a significant elevation in the porto-systemic pressure gradient, leading to the development of varices and subsequent hemorrhage. Due to the low prevalence of HHT, previous research often overlooked its connection with HAPF. Clinicians frequently studied HAPF as independent vascular anomalies rather than HHT-related conditions. Notably, there are limited reports on HHT-induced HAPF fistulas causing portal hypertension, along with scarce clinical treatment experience and research data. Owing to its demonstrated efficacy in significantly reducing portal venous pressure, TIPS procedure has become a widely adopted therapeutic intervention in the management of complications related to portal hypertension[16,17]. This procedure is primarily indicated for patients with decompensated cirrhosis complicated by portal hypertension-related complications such as esophageal variceal bleeding and ascites. However, the application of TIPS for portal hypertension secondary to HHT and liver cirrhosis poorly documented in the current literature. Following the TIPS procedure, portal pressure gradient was significantly reduced (37 mmHg-15 mmHg post-TIPS), indicating effective shunt function. According to European Association for the Study of the Liver guidelines, this hemodynamic improvement theoretically fulfills the key criterion for substantially lowering the risk of variceal rebleeding[17]. Although the esophagogastric varices in the patient disappeared significantly after TIPS and there was no recurrence of bleeding, TIPS treatment of HAPF may carry potential long-term risks. These include a reduction in hepatic perfusion due to the shunt, which may lead to progressive liver dysfunction, and an increased cardiac preload resulting from the elevated venous return, potentially culminating in high-output heart failure. Consequently, comprehensive cardiac evaluation, such as echocardiography, is mandatory prior to proceeding with TIPS placement in these patients. And long-term follow-up is imperative to monitor for these complications and to evaluate the durability of the treatment.

CONCLUSION

In conclusion, TIPS represents a critical and effective intervention for patients with portal hypertension secondary to both liver cirrhosis and HAPF, though ongoing surveillance is warranted to ensure sustained positive outcomes.

ACKNOWLEDGEMENTS

We would like to acknowledge our patient for her support.