hepatic vein thrombosis (Budd-Chiari syndrome)
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Introduction
Suspect in a young person with sudden onset of ascites.
Etiology
- 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
- infection
- malignancy
- sarcoid
- pregnancy or use of oral contraceptive
- trauma
Epidemiology
- rare
- 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
- sudden onset of symptoms
- gradual onset of mild, intermittent abdominal pain
- hepatomegaly
- ascites
- edema of ankles
- engorged venous collaterals in epigastrium & lower thorax
- splenomegaly
- jaundice may be observed
- shock
- coma
- may present as acute liver failure[4]
Laboratory
- complete blood count (CBC)
- eyrthrocytosis, leukocytosis, thrombocytosis (case[4])
- prothrombin time (INR)
- liver function tests
- hepatitis panel
- serum iron & total iron-binding capacity (TIBC)
- ceruloplasmin in serum (rule out Wilson's disease)
- alpha-1 antitrypsin in serum (rule out alpha-1 antitrypsin deficiency)
- autoantibodies
- anti double-stranded DNA antibody in serum
- anti mitochondrial antibody in serum
- anti smooth muscle antibody in serum
- JAK2 V617F mutation (50%) due to poycythemia vera
- even in the absence of erythrocytosis or thrombocytosis[4]
- urine toxicology
Radiology
- abdominal ultrasound (doppler)
- angiography may visualize obstruction
Differential diagnosis
Management
- long-term anticoagulation
- thrombolytic agents (controversial)
- angioplasty of hepatic veins
- transjugular intrahepatic portosystemic shunt (TIPS)
- liver transplantation
- prognosis: poor
More general terms
Additional terms
References
- ↑ Manual of Medical Therapeutics, 28th ed, Ewald & McKenzie (eds), Little, Brown & Co, Boston, 1995, pg 469
- ↑ DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 893-94
- ↑ Ferri's Clinical Advisor, Instant Diagnosis and Treatment, Ferri FF (ed), Mosby, Philadelphia, 2003, pg 158
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018.
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/20361090
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/19652186
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/19399912
- ↑ 8.0 8.1 Sogaard KK et al. Splanchnic venous thrombosis is a marker of cancer and a prognostic factor for cancer survival. Blood 2015 Jun 18 PMID: https://www.ncbi.nlm.nih.gov/pubmed/26089394
- ↑ Yonal I et al The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22569900
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/23043069 Free Article