A 17-year-old female came to clinic for followup from an emergency department visit for abdominal pain 1 week previously. She described abdominal pain in the mid- to upper- quadrants that occurred more in the evening and also during the night. It was described as a 6-7/10 in intensity without radiation and lasted from 5-30 minutes. She describes normal bowel and urinary patterns. She had nausea with the episodes but not at other times and had no emesis. It was not worse with eating, and no foods in particular bothered her.
The past medical history was positive for intermittent abdominal pain for the preceding year. The family history was non-contributory. The review of systems was negative including fever, chills, joint pain, rashes, jaundice, or pruritus. She did have a reported 15 pound weight loss over 2-3 months, with a confirmed 2 pound weight loss since the emergency room visit. She also described just being more tired overall.
The pertinent physical exam showed a thin, tired-appearing female with normal vital signs. Her abdominal examination revealed a slightly protuberant abdomen without a fluid wave. Her liver was palpable ~6 cm below the costal margin and had mild tenderness over it. Her spleen could be palpated also. She had no other tenderness or masses palpable. She had no jaundice but did have prominent veins on her abdomen. Her heart examination was normal without jugular venous distention.
The diagnosis of abdominal pain with hepatosplenomegaly was made.
The radiologic evaluation included an ultrasound of her abdomen which found splenomegaly and hepatomegaly with an undefined area of the right liver lobe that appeared probably vascular. The laboratory evaluation showed elevated liver function tests (ALT = 189 U/L, AST = 208 U/L, total bilirubin = 5.4 mg/dl, with a direct bilirubin of 0.6 mg/dl) with normal prothrombin and INR. Pancreatic and kidney functions along with other chemistries were within normal limits. Urinalysis was normal. The pediatrician contacted the gastroenterology service who saw her the following day and admitted her for further evaluation.
The patient’s clinical course over the next several days included a computed tomographic evaluation which showed a diagnosis of Budd-Chiari syndrome. Evaluations were begun to identify the cause and she was treated medically. She was discharged home and was being monitored closely.
Budd-Chiari syndrome (BCS) is a rare liver disease caused by hepatic venous outflow obstruction (HVOTO). The obstruction can be anywhere from the small intrahepatic veins up to the inferior vena cava junction with the right atrium. The liver parenchyma itself is not directly affected but becomes compromised because of the increased hepatic sinusoidal pressure over time. The causes include: prothrombic events (35% of cases such as Protein C or Protein S deficiency, Factor V Leiden or antithrombin deficiency), myeloproliferative conditions, oral contraceptive use, and local factors.
BCS can occur in any age but is more common in the adult population with it occurring more commonly in females than males. Clinically the presentation can be acute, subacute or chronic. Some patients remain asymptomatic (up to 15%) and others present in fulminant hepatic failure. It is believed this is due to the rapidity of the hepatic vein occlusion and the inability to develop collateral circulation. Classically BCS presents as abdominal pain, hepatomegaly and ascites in adult patients. Fever, esophageal bleeding or hepatic encephalopathy are much less common.
Clinical presentation does not correlate with duration of disease. Asymptomatic patients have a good prognosis but symptomatic patients often don’t without treatment. “The reported life expectancy in these patient is 3 years after the first symptoms.” However treatment for underlying causes, angioplasty, transjugular intrahepatic portosystemic shunt (TIPS) procedure and liver transplantation has increased the 5-year survival to 85%.
Diagnosis should be considered with acute or chronic liver disease and is diagnosed by lab testing and imaging.
In a case series of 7 children with BCS, the most common symptoms were abdominal distension, lethargy and anorexia, with abdominal pain being present in only 2 patients. Six patients survived.
In another 6-year case series of 25 children and adolescents with BCS, the most common presenting symptoms were abdominal distension (N=20), loose stools (N-8), with other problems such as poor feeding, fever, edema, abdominal pain, or emesis all occurring in 2 patients or fewer. Seventeen patients were alive at the end of the series.
In a third study of 43 adolescents with BCS who were compared to adult and children, hepatomegaly without ascites was more common in adolescents than adults or children (14/43). Thrombophilic causes were less common for the adolescents than adults but similar to children. They found that 10% of adult patients had their first symptoms in adolescence. They also found an improved response to therapy for adolescents (particularly medical therapy) and believe this may be because of increased collateral vascular formation. Four adolescents died compared to 12/129 adults.
“It may be argued that the disease course of BCS may have its origin in adolescence in a subset of adult patients…[t]he more severe symptoms of adult patient might have resulted from delayed diagnosis and treatment or milder symptoms of adolescent patients due to early diagnosis and treatment.”
Questions for Further Discussion
1. What causes abdominal distension? A review can be found here
2. What causes an abdominal mass? A review can be found here
- Disease: Budd-Chiari Syndrome | Liver Diseases
- Symptom/Presentation: Abdominal Mass | Abdominal Pain
- Specialty: Gastroenterology
- Age: Teenager
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.
Information prescriptions for patients can be found at MedlinePlus for this topic: Liver Diseases
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
To view videos related to this topic check YouTube Videos.
Nobre S, Khanna R, Bab N, Kyrana E, Height S, Karani J, Kane P, Heaton N, Dhawan A. Primary Budd-Chiari Syndrome in Children: King’s College Hospital Experience. J Pediatr Gastroenterol Nutr. 2017 Jul;65(1):93-96.
Valla DC. Budd-Chiari syndrome/hepatic venous outflow tract obstruction. Hepatol Int. 2018 Feb;12(Suppl 1):168-180.
Redkar R, Bangar A, Hathiramani V, Raj V, Swathi C. Pediatric Budd-Chiari Syndrome: A Case Series. Indian Pediatr. 2018 Oct 15;55(10):871-873.
Shukla A, Bhatt P, Gupta DK, Modi T, Patel J, Gupte A, Meshram M, Bhatia S. Budd-Chiari syndrome has different presentations and disease severity during adolescence. Hepatol Int. 2018 Nov;12(6):560-566.
Raza SM, Zainab S, Shamsaeefar AR, Nikeghbalian S, Malek Hosseini SA. Experience of Liver Transplant in Patients Diagnosed with Budd-Chiari Syndrome. Exp Clin Transplant. 2018 Apr;16(2):177-181.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa