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hepatic vein thrombosis (Budd-Chiari syndrome)

Suspect in a young person with sudden onset of ascites. Etiology: 1) hypercoagulability - JAK2 V617F mutation (50%) due to polycythemia vera - factor V Leiden mutation - more commonly presents as DVT or pulmonary embolism [4] - protein C deficiency - activated protein C resistance - antithrombin III deficiency - paroxysmal nocturnal hemoglobinuria 2) infection a) liver abscess b) filariasis c) schistosomiasis d) hydatid cyst e) syphilis f) tuberculosis 3) malignancy a) adrenal carcinoma b) ovarian cancer c) bronchogenic carcinoma d) renal cancer e) hepatocellular carcinoma f) leiomyosarcoma g) myeloproliferative syndrome (50-60%, RR=764) [4,8] - polycythemia vera - essential thrombocytosis - myelofibrosis [4] 4) sarcoid 5) pregnancy or use of oral contraceptive 6) trauma Epidemiology: 1) rare 2) most common hepatic vascular disease Pathology: - obstruction of hepatic vein outflow involving either the hepatic veins or the terminal segment of the inferior vena cava - obstruction generally results from thrombosis - obstruction leads to hepatic congestion & ischemic necrosis - absence of right heart failure, constrictive pericarditis [4] Genetics: - susceptibility associated with JAK2 V617F mutation & factor V Leiden mutation Clinical manifestations: 1) sudden onset of symptoms a) epigastric pain, right upper quadrant pain b) vomiting 2) gradual onset of mild, intermittent abdominal pain 3) hepatomegaly 4) ascites 5) edema of ankles 6) engorged venous collaterals in epigastrium & lower thorax 7) splenomegaly 8) jaundice may be observed 9) shock 10) coma 11) may present as acute liver failure [4] Laboratory: 1) complete blood count (CBC) - eyrthrocytosis, leukocytosis, thrombocytosis (case [4]) 2) prothrombin time (INR) 3) liver function tests - elevated serum AST & serum ALT 4) hepatitis panel 5) serum iron & total iron-binding capacity (TIBC) 6) ceruloplasmin in serum (rule out Wilson's disease) 7) alpha-1 antitrypsin in serum (rule out alpha-1 antitrypsin deficiency) 8) autoantibodies a) anti double-stranded DNA antibody in serum b) anti mitochondrial antibody in serum c) anti smooth muscle antibody in serum 9) JAK2 V617F mutation (50%) due to poycythemia vera - even in the absence of erythrocytosis or thrombocytosis [4] 9) urine toxicology Radiology: 1) abdominal ultrasound (doppler) 2) angiography may visualize obstruction Differential diagnosis: 1) shock liver 2) hepatitis a) viral hepatitis b) alcoholic hepatitis 3) pancreatitis 4) cholecystitis 5) perforated bowel 6) hepatic cirrhosis a) Wilson's disease b) hemochromatosis c) alpha-1 antitrypsin deficiency d) alcoholic cirrhosis e) autoimmune disease Management: 1) long-term anticoagulation 2) thrombolytic agents (controversial) 3) angioplasty of hepatic veins 4) transjugular intrahepatic portosystemic shunt (TIPS) 5) liver transplantation 6) prognosis: poor

Related

ascites hepatic vein hypercoagulability

General

splanchnic vein thrombosis (SVT) liver disease

Database Correlations

OMIM 600880

References

  1. Manual of Medical Therapeutics, 28th ed, Ewald & McKenzie (eds), Little, Brown & Co, Boston, 1995, pg 469
  2. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 893-94
  3. Ferri's Clinical Advisor, Instant Diagnosis and Treatment, Ferri FF (ed), Mosby, Philadelphia, 2003, pg 158
  4. Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018.
  5. Smira G, Gheorghe L, Iacob S, Coriu D, Gheorghe C. Budd Chiari syndrome and V617F/JAK 2 mutation linked with the myeloproliferative disorders. J Gastrointestin Liver Dis. 2010 Mar;19(1):108-9. PMID: 20361090
  6. Darwish Murad S, Plessier A, Hernandez-Guerra M et al Etiology, management, and outcome of the Budd-Chiari syndrome. Ann Intern Med. 2009 Aug 4;151(3):167-75. PMID: 19652186
  7. DeLeve LD, Valla DC, Garcia-Tsao G; American Association for the Study Liver Diseases. Vascular disorders of the liver. Hepatology. 2009 May;49(5):1729-64. PMID: 19399912
  8. Sogaard KK et al. Splanchnic venous thrombosis is a marker of cancer and a prognostic factor for cancer survival. Blood 2015 Jun 18 PMID: 26089394
  9. Yonal I et al The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. PMID: 22569900
  10. Smalberg JH, Arends LR, Valla DC Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis. Blood. 2012 Dec 13;120(25):4921-8. Review. PMID: 23043069 Free Article