Research letter
Cystic Biliary Atresia
A single-center, retrospective analysis
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Biliary atresia (BA) is a rare neonatal disorder of unknown etiology, which leads to progressive liver failure via the inflammatory destruction of the extrahepatic and intrahepatic bile ducts. In spite of an incidence of 1:19,000 in western Europe, biliary atresia is the most common indication for liver transplantations in childhood (1). The treatment of choice is the Kasai procedure at the earliest possible age, which entails the removal of the fibrotic remnants of the extrahepatic bile ducts and creation of a portoenterostomy (drainage using a segment of the child´s jejunum). If the Kasai portoenterostomy takes place before the child’s 60th day of life, liver transplantation can be prevented in a relevant number of children, and the chance of long-term survival with their native liver increases (2).
But biliary atresia is a heterogeneous pathology and is characterized by great variability in the extent of extrahepatic biliary duct destruction. A rare subcategory is cystic biliary atresia, in which a cystic formation at the liver hilum can be confirmed even prenatally. This cyst may have a connection to the intrahepatic bile ducts but no distal outflow into the duodenum; affected children consequently have symptoms of cholestasis with persistent icterus and acholic stools as in further variants of biliary atresia (3). Interpretating cystic biliary atresia incorrectly as a choledochal cyst is fatal—choledochal cysts also present with a cystic enlargement of the extrahepatic and—rarely—intrahepatic bile ducts, but the bile ducts are not obstructed. Misdiagnoses of these entities result in delayed initiation of treatment and subsequently increased risk of advanced liver function impairment. We present healthcare data for such children for the first time in the German medical literature.
Methods
We carried out a retrospective data analysis of children with biliary atresia who were diagnosed in the department of pediatric surgery at the Hannover Medical School between 2011 and 2020. All diagnoses were confirmed by means of intraoperative cholangiography and liver biopsy. We collected demographic data, preoperative assignment data, laboratory chemistry data, intraoperative data, as well as 6 month and 2 year follow-up data. Fibrosis of the liver at the time the Kasai portoenterostomy was carried out was classified according to the Ishak semi-quantitative scoring system (1, 2, 3, 4, 5, 6).
Results
During the study period Kasai procedure was performed in 164 children with biliary atresia (Table). Isolated BA with complete destruction of the extrahepatic bile ducts was present in 141 children (86%), whereas 23 children (14%) had a cystic variant. Whereas all patients with isolated BA were transferred to our hospital with an admission diagnosis of neonatal cholestasis to rule out biliary atresia, the children with cystic BA 13 of 23 (57%) were referred to us with a suspected diagnosis of a choledochal cyst. For 3 (13%) of these children, an elective presentation date between the 3rd and 6th months of life was recommended. At admission, all children with cystic BA had icterus and their stools were acholic. Five children with cystic BA (22%) had developed complications even before their first presentation—three (13%) had coagulopathy subsequent to vitamin K deficiency and an INR >4.5, whereas two children (8%) were diagnosed with vitamin K deficiency related bleeds, which in one case necessitated a neurosurgical intervention.
At the time of admission, the children with cystic BA were older than the children with isolated BA (64 versus 57 days of life). After admission, the Kasai portoenterostomy was nominally indicated more rapidly in the children with cystic BA (4 days versus 8 days) and at the time of the surgery children were of a slightly older age in the group with cystic BA (64 versus 60 days of life). The liver biopsies taken intraoperatively showed for the children with cystic BA at the time of the Kasai operation already histologically more advanced fibrotic transformations according to the Ishak classification (4 versus 3.5).
Follow-up data were available for 87% of children. Two years after the Kasai operation, more children with cystic BA achieved native liver survival than in the group with isolated BA (p 0.30). In the subgroup analysis 65% of children with cystic BA who retained their own livers were jaundice-free two years after the Kasai operation (bilirubin <20 µmol/L); in the children with isolated BA the proportion was 42% (p 0.10).
Discussion
According to current European data, biliary atresia is still being diagnosed and treated too late (1). Especially vitamin K deficiency bleeds constitute a relevant complication that may occur as a result of the delayed diagnosis. This dilemma is very clearly illustrated by the example of cystic BA: In the UK, patients with cystic BA undergo surgery a mean 10 days earlier than those with isolated BA (47 versus 58 days of life; p=0.02), whereas in our cohort the children with cystic BA were treated later (63 versus 60 days of life; p=0.2) (4).
Current developments, however, may lead to improved healthcare provision for neonates with cholestasis in the long term: After the recent decision of the Federal Joint Committee, since November 2023 stool color charts/scales have been included in the yellow booklet for documenting pediatric examinations, which are intended to help parents to identify acholic stools in their children and seek help from a pediatrician as soon as possible. Furthermore we wish to mention the Association of the Scientific Medical Societies in Germany (AWMF) guideline for neonatal cholestasis, recently revised by a multidisciplinary team. This guideline contains a clear recommendation for bilirubin testing with differentiation (conjugated bilirubin) in children remaining icteric beyond the 14th day of life and in exclusively breastfed children a re-evaluation at the age of three weeks (5).
If abnormalities are detected the patient should urgently be presented to a center with pediatric surgical and pediatric hepatologic expertise.
Omid Madadi-Sanjani, Vincent Rohrbacher, Marie Uecker
Conflict of interest statement
The authors declare that no conflict of interest exists.
Manuscript received on 10 February 2024, revised version accepted on 21 May 2024.
Cite this as:
Madadi-Sanjani O, Rohrbacher V, Uecker M:
Cystic biliary atresia—a single-center, retrospective analysis.
Dtsch Arztebl Int 2024; 121: 641–2.
DOI: 10.3238/arztebl.m2024.0114
Department of Pediatric Surgery, University Medical Center Hamburg-Eppendorf (Madadi-Sanjani)
