Introduction

Congenital portosystemic shunts (CPSS) are associated with an array of clinical signs and symptoms of varying severity in both adults and children. Yet, symptoms are often missed and ascribed to other etiologies. Understanding presenting complaints will increase awareness of this rare disorder. To this end the International Registry of Congenital Portosystemic shunts (IRCPSS) was created. Here we report an up-to-date description of the patients enrolled in the IRPCSS focusing on presenting complaints.

Aims & Methods

Descriptive analysis of the ESPGHAN sponsored IRCPSS described in (1)

Results

256 patients were enrolled - 125 females (49%). Type of CPSS was available for 212: 88 (41.5%) presented with intrahepatic (IHS) and 124 (58.5%) with extrahepatic (EHS) shunts. Clinical data were available for 71 with IHS and 106 with EHS. 51 (72 %) of IHS were asymptomatic. Of the 20 (28%) symptomatic, median age at diagnosis was 0.59 years (14 days-19.9 years). Presenting complaint included liver in 14, cardiopulmonary in 6, neurological in 2, other in 7. Of 56 IHS closed, 21 (37.5%) closed spontaneously before age 1. 29 (52%) were closed using interventional radiology. Among 106 patients with EHS, 72 (68%) were asymptomatic. Among symptomatic patients, median age at diagnosis was 7.49 years (14 days- 24.9 years). Presenting complaints included liver in 15, cardiopulmonary in 13, neurological in 13, and other in 17. 74 patients had closed shunts at last follow-up; they were closed at a median age of 2.7 years (18 days- 25.4 years). Spontaneous closure was reported in 2 patients, otherwise closure was performed by interventional radiology in 25 (34%), or surgery in 40 (54%) and 7 undergoing LT.

Conclusion

Most shunts were asymptomatic at diagnosis. Among symptomatic patients, the median age at diagnosis was higher in EHS than IHS. IHS and EHS were equally likely to be closed, with IHS more likely to close
spontaneously within the first year of life.

References

(1) Korff S, Mostaguir K, Beghetti M, D'Antiga L, Debray D, Franchi-Abella S, Gonzales E, Guerin F, Hachulla AL, Lambert V, Makrythanasis P, Roduit N, Savale L, Senat MV, Spaltenstein J, van Steenbeek F, Wildhaber BE, Zwahlen M, McLin VA. International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts.Orphanet J Rare Dis. 2022 Jul 19;17(1):284.

Disclosure

V McLin consults for Mirum and Ipsen. L Savale consults for MSD, Janssen, and GSK. Neither

Clinical Case Summary

Abernethy malformation (AM) is a rare type of congenital extrahepatic portosystemic shunt. Two types are recognised: in type 1 AM, there is complete shunting and absent portal vein, while in type 2 AM there is partial shunting and an hypoplastic portal vein. Multiple congenital anomalies are seen in association with AM and it can present with a broad spectrum of clinical manifestations.

We report the case of a 58-year-old female initially investigated for recurrent episodes of psychomotor lentification, disorientation and elevated ammonia levels. Blood tests and transient elastography excluded advanced chronic liver disease. An abdominal CT scan revealed a portosystemic shunt involving the left portal branch and inferior vena cava (type 2 AM). Although treatment with lactulose was effective at first, the patient ultimately came to develop more frequent episodes. Rifaximin was only partially effective. Thus, interventional Radiology evaluation was requested for eventual treatment. Hepatic hemodynamic studies were significant for a hepatic venous pressure gradient of 14 mmHg, augmented to 24 mmHg during a balloon occlusion test. The decision was made to perform an endovascular single-step occlusion of the shunt. Follow-up CT scan confirmed shunt closure, inferior vena cava patency and reperfusion of intrahepatic portal branches. Subsequent endoscopy was negative for signs of portal hypertension. On 1-year follow-up, the patient is asymptomatic.

No guidelines are currently available to standardise management of AM. The first concern should be to to distinguish AM from intrahepatic shunts and acquired extrahepatic shunts. Liver transplantation is only a valid option for type 1 AM. Conversely, type 2 AM is best managed by obliteration of the shunt, either by surgical ligation or endovascular occlusion. This case highlights the role of minimally invasive techniques in treating this condition without significant morbidity.

References

1. Kraus C, Sheynzon V, Hanna R, Weintraub J. Single Stage Endovascular Treatment of a Type 2 Abernethy Malformation: Successful Nonsurgical Outcome in a Case Report. Case Rep Radiol. 2015;2015:491867.

2. Kwapisz L, Wells MM, AlJudaibi B. Abernethy malformation: congenital absence of the portal vein. Can J Gastroenterol Hepatol. 2014 Dec;28(11):587–8.

3. Lin Y, Li X, Li S, Ba H, Wang H, Zhu L. Treatment Option for Abernethy Malformation-Two Cases Report and Review of the Literature. Front Pediatr. 2020;8:497447.

Introduction

Hepatic encephalopathy (HE) after Transjugular Intrahepatic Portosystemic Shunt (TIPS) affect 35-50% of patients. The use of prophylactic agents (Lactulose and Rifaximin) to prevent post-TIPS HE remains controversial and currently not recommended by professional guidelines. Our aim was to assess real world practice and identify potential predictors for post-TIPS HE and benefit from post-TIPS prophylaxis.

Aims & Methods

Retrospective cohort study of patients undergoing TIPS at the Tel-Aviv Medical Center (2016-2024). The primary outcome was overt HE, with secondary outcomes of liver transplantation (LT) and mortality.

Results

Seventy-nine patients underwent TIPS, median age was 60 years and 52% were male. Primary liver disease was metabolic dysfunction-associated steatohepatitis (MASH) in 34%, viral (20%), and alcohol-related liver disease (ALD) (16.5%). Indications for TIPS were variceal bleeding (52%) and refractory ascites (38%). Prior to the procedure 31% had ≥ 1 episodes of HE, 21.5% were treated with Lactulose and/or Rifaximin, and 58% were on betablocker treatment. At the time of the procedure, the patient's Child-Pugh score was A/B/C in 19%/66%/11% respectively, with a median MELD-Na of 10.9. Median follow up was 22.75 months. Overall, 22 patients died during follow-up and 8 underwent liver transplantation. 45 patients (57%) developed post-TIPS HE, 60% of them during the first three months. Early post-TIPS HE treatment was given to 49%: 10% Lactulose, 5% Rifaximin, and 34% both. Among those patients, 44% were previously (pre-TIPS) on HE treatment. Development of HE was not predicted by pre-or post-TIPS MELD-Na or Child-Pugh score, TIPS diameter, postTIPS gradient, or post-procedure ammonia levels. Rates of HE also did not differ according to initial prophylaxis treatment (59% with treatment, 56% without, p=1). Pre-TIPS AST and albumin were associated with post-TIPS HE (36.6U/L vs. 60.44 U/L, p=0.03; 34.6g/dl vs. 31.8g/dl, p = 0.05). Prior beta-blocker treatment was associated with post-TIPS HE (14% vs 32%, p = 0.01) but not varices as the indication for TIPS. Mortality rate was not affected by the occurrence of post-TIPS HE (28% among those who developed HE vs. 26% among those who didn't, p = 1).

Conclusion

Early post-TIPS preventive treatment was mostly given to patients previously treated with Lactulose/Rifaximin, however it did not affect the rate of post-TIPS HE. Development of HE did not increase mortality.

References

1. Wolfgang el al. ASSLD practice Guidance, Hepatology (2024)
2. Yao el al.J Gastrointestin Liver Dis (2015)