Overview
Definition:
Budd–Chiari syndrome (BCS) is a rare condition characterized by obstruction of hepatic venous outflow, most commonly due to thrombosis of the hepatic veins or the suprahepatic inferior vena cava
In adolescents, it often presents with a more insidious onset and is frequently associated with an underlying hypercoagulable state.
Epidemiology:
BCS is uncommon in children and adolescents, accounting for approximately 5-10% of all BCS cases
The incidence is difficult to ascertain due to its rarity and varied presentations
A significant proportion (30-50%) of pediatric BCS cases are associated with inherited or acquired thrombophilias.
Clinical Significance:
Early diagnosis and management of BCS in adolescents are crucial due to the risk of rapid progression to liver failure, portal hypertension, and variceal bleeding
Identifying an underlying hypercoagulable state is essential for targeted therapy and prevention of recurrence, impacting long-term outcomes and management strategies for DNB and NEET SS candidates.
Clinical Presentation
Symptoms:
Right upper quadrant abdominal pain
Ascites and abdominal distension
Hepatomegaly
Jaundice, especially in later stages
Esophageal variceal bleeding
Encephalopathy
Nausea and vomiting
Fever may be present
Acute onset with rapid deterioration is possible.
Signs:
Hepatomegaly, often tender
Splenomegaly
Ascites
Jaundice
Signs of portal hypertension (e.g., dilated abdominal veins, caput medusae)
Hepatic encephalopathy (asterixis, altered mental status)
Evidence of coagulopathy (e.g., bruising, petechiae).
Diagnostic Criteria:
No universally defined diagnostic criteria specific to adolescents exist, but diagnosis relies on a combination of clinical suspicion, imaging, and exclusion of other causes
Key features include unexplained hepatomegaly, ascites, or abnormal liver function tests in the presence of hepatic venous outflow obstruction confirmed by imaging.
Diagnostic Approach
History Taking:
Detailed family history for thrombotic events or clotting disorders
Personal history of previous thrombotic events, unexplained infant death, or recurrent abortions
Use of oral contraceptives or other estrogen-containing medications (less common in this age group but possible)
Recent infections or inflammatory conditions
History of malignancy.
Physical Examination:
Thorough abdominal examination for tenderness, hepatomegaly, splenomegaly, and ascites
Assessment for signs of portal hypertension
Neurological examination for signs of hepatic encephalopathy
Examination for other signs of systemic illness or coagulopathy.
Investigations:
Liver function tests (LFTs): Elevated AST, ALT, bilirubin, and alkaline phosphatase
Coagulation profile: Prolonged PT/INR, PTT, decreased fibrinogen, elevated D-dimer
Thrombophilia workup: Screening for Factor V Leiden mutation, Prothrombin gene mutation (G20210A), Antithrombin III deficiency, Protein C deficiency, Protein S deficiency, Antiphospholipid antibodies (lupus anticoagulant, anticardiolipin antibodies, anti-beta2-glycoprotein I antibodies)
Homocysteine levels
Imaging: Doppler ultrasonography of the abdomen is the initial imaging modality of choice to visualize hepatic veins and IVC patency
CT venography or MR venography provides more detailed anatomical information and helps delineate the extent of thrombosis
Liver biopsy may be considered to assess the degree of hepatic damage and rule out other causes of liver disease.
Differential Diagnosis:
Other causes of hepatomegaly and ascites in adolescents, including congestive heart failure, nephrotic syndrome, liver tumors, viral hepatitis, autoimmune hepatitis, alcoholic liver disease (rare in adolescents), Wilson's disease, alpha-1 antitrypsin deficiency, and other forms of intrahepatic venous outflow obstruction.
Management
Initial Management:
Stabilization of the patient
Management of ascites (diuretics, paracentesis)
Treatment of hepatic encephalopathy (lactulose, antibiotics)
Management of variceal bleeding (endoscopic band ligation, beta-blockers)
Fluid and electrolyte balance.
Medical Management:
Anticoagulation: Unfractionated heparin or low-molecular-weight heparin (LMWH) followed by long-term oral anticoagulation (warfarin, direct oral anticoagulants - DOACs) is the cornerstone of management
Duration of anticoagulation is usually lifelong
Thrombolysis: May be considered in acute, rapidly progressing cases with salvageable liver function, often guided by interventional radiology
Pharmacological treatment for underlying causes of acquired thrombophilia (e.g., immunosuppressants for autoimmune conditions).
Surgical Management:
Surgical shunting (e.g., mesoatrial shunt) or liver transplantation may be considered in patients with severe, irreversible liver damage, refractory ascites, or recurrent bleeding despite optimal medical management
Transjugular intrahepatic portosystemic shunt (TIPS) is generally less favored in pediatric BCS due to higher complication rates but may be an option in select cases.
Supportive Care:
Nutritional support to prevent malnutrition and sarcopenia
Close monitoring of liver function, coagulation parameters, and electrolyte balance
Management of infections
Psychological support for the adolescent and family.
Complications
Early Complications:
Acute liver failure
Fulminant hepatic failure
Rupture of esophageal varices with massive hemorrhage
Sepsis
Renal failure.
Late Complications:
Chronic liver disease with cirrhosis
Portal hypertension
Recurrent ascites and variceal bleeding
Hepatocellular carcinoma (increased risk in chronic BCS).
Prevention Strategies:
Lifelong anticoagulation to prevent recurrence of thrombosis
Regular follow-up with hepatologist and hematologist
Screening of first-degree relatives for inherited thrombophilias
Adherence to anticoagulation therapy and medical advice.
Prognosis
Factors Affecting Prognosis:
Severity of hepatic venous outflow obstruction
Degree of liver damage (fibrosis/cirrhosis)
Presence and severity of portal hypertension
Response to anticoagulation therapy
Promptness of diagnosis and initiation of treatment
Development of complications such as variceal bleeding or liver failure.
Outcomes:
With timely diagnosis and aggressive management, including anticoagulation, many adolescents can achieve a stable state and avoid progression to end-stage liver disease
However, BCS remains a serious condition with significant morbidity and mortality, especially in cases of delayed diagnosis or severe presentations
Liver transplantation offers a definitive solution for end-stage liver disease.
Follow Up:
Regular monitoring of LFTs, coagulation profile, and D-dimer levels
Serial Doppler ultrasonography to assess hepatic vein patency and identify new thrombi
Endoscopic surveillance for esophageal varices
Monitoring for signs of hepatic encephalopathy and ascites
Ongoing assessment of adherence to anticoagulation therapy
Lifelong follow-up is typically required.
Key Points
Exam Focus:
High index of suspicion for BCS in adolescents with unexplained hepatomegaly, ascites, or variceal bleeding
Thrombophilia workup is mandatory in all pediatric BCS cases
Anticoagulation is the mainstay of treatment
Differentiate between inherited and acquired thrombophilias for appropriate management.
Clinical Pearls:
Consider BCS in any adolescent presenting with acute or subacute onset of abdominal pain, ascites, and hepatomegaly, especially in the absence of other clear etiologies
Doppler ultrasound is the first-line investigation
Early initiation of anticoagulation is critical to prevent further thrombus propagation and improve outcomes.
Common Mistakes:
Delayed diagnosis due to attributing symptoms to more common pediatric conditions
Inadequate or delayed thrombophilia workup
Discontinuation of anticoagulation leading to recurrence
Failure to manage complications like variceal bleeding or encephalopathy aggressively.