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| {{Infobox_Disease
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| | Name = {{PAGENAME}}
| | {{Budd-Chiari syndrome}} |
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| | {{CMG}} ; {{AE}} {{Mazia}} |
| | Caption =
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| | DiseasesDB = 1735
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| | ICD10 = {{ICD10|I|82|0|i|80}}
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| | ICD9 = {{ICD9|453.0}}
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| | ICDO =
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| | OMIM = 600880
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| | MedlinePlus =
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| | eMedicineSubj = med
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| | eMedicineTopic = 2694
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| | eMedicine_mult = {{eMedicine2|ped|296}} {{eMedicine2|radio|121}}
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| | MeshID = D006502
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| }} | |
| {{Search infobox}} | |
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| '''''Synonyms and keywords:''''' Hepatic vein obstruction
| | {{SK}} Hepatic vein obstruction; hepatic vein thrombosis; Chiari-Budd syndrome; Chiari's disease; Rokitansky's disease |
| ==Overview==
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| The '''Budd-Chiari syndrome''' is the clinical picture caused by [[occlusion]] of the [[hepatic vein]] or [[inferior vena cava]]. Its presents with the classical triad of abdominal pain, ascites and hepatomegaly. Examples of occlusion include thrombosis of hepatic veins and membranous webs in the inferior vena cava. The syndrome can be fulminant, acute, chronic, or asymptomatic.
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| ==Historical perspective== | | ==[[Budd-Chiari syndrome overview|Overview]]== |
| '''Eponym'''
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| It is named for George Budd<ref>{{WhoNamedIt|synd|1335}}</ref><ref>G. Budd. On diseases of the liver. London, J. Churchill, 1845. Page 135.</ref> and Hans Chiari.<ref>H. Chiari. Erfahrungen über Infarktbildungen in der Leber des Menschen. Zeitschrift für Heilkunde, Prague, 1898, 19: 475-512.</ref>
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| ==Epidemiology and Demographics== | | ==[[Budd-Chiari syndrome historical perspective|Historical Perspective]]== |
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| It occurs in 1 out of 100,000 individuals and is more common in females. Some 10-20% also have obstruction of the portal vein.
| | ==[[Budd-Chiari syndrome classification|Classification]]== |
| ==Signs and symptoms== | |
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| The acute syndrome presents with rapidly progressive: severe upper [[abdominal pain]], [[jaundice]], [[hepatomegaly]] (enlarged [[liver]]), [[ascites]], elevated [[liver enzyme]]s, and eventual [[encephalopathy]]. The fulminant syndrome presents early with encephalopathy and ascites. Severe hepatic [[necrosis]] and [[lactic acidosis]] may be present as well. Caudate lobe hypertrophy is often present. The majority of patients have a slower-onset form of Budd-Chiari syndrome. This can be painless. A system of venous collaterals may form around the occlusion which may be seen on imaging as a "spider's web." Patients may progress to [[cirrhosis]] and show the signs of liver failure.
| | ==[[Budd-Chiari syndrome pathophysiology|Pathophysiology]]== |
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| An asymptomatic form may be totally silent and discovered only incidentally. It is generally not concerning.
| | ==[[Budd-Chiari syndrome causes|Causes]]== |
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| ==Causes== | | ==[[Budd-Chiari syndrome differential diagnosis|Differentiating Budd-Chiari Syndrome from other Diseases]]== |
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| * Primary (75%): [[thrombosis]] of the hepatic vein
| | ==[[Budd-Chiari syndrome epidemiology and demographics|Epidemiology and Demographics]]== |
| * Secondary (25%): compression of the hepatic vein by an outside structure (e.g. a [[tumor]])
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| Often, the patient is known to have a tendency towards [[thrombosis]], although Budd-Chiari syndrome can also be the first symptom of such a tendency. Examples of genetic tendencies include [[Protein C]] deficiency, [[Protein S]] deficiency, and the [[Factor V Leiden]] mutation. An important non-genetic risk factor is the use of estrogen-containing (combined) forms of [[hormonal contraception]]. Other risk factors include the [[antiphospholipid syndrome]], [[aspergillosis]], [[Behcet's disease]], [[dacarbazine]], [[pregnancy]], and [[Physical trauma|trauma]].
| | ==[[Budd-Chiari syndrome risk factors|Risk Factors]]== |
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| Many patients have Budd-Chiari syndrome as a complication of [[polycythemia|polycythemia vera]] ([[myeloproliferative disease]] of [[red blood cell]]s). <ref>Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gaken J, Wendon J, Heaton ND, Mufti GJ. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology. 2006 Jun;130(7):2031-8.</ref> Patients suffering from [[paroxysmal nocturnal hemoglobinuria]] (PNH) appear to be especially at risk for Budd-Chiari syndrome, more than other forms of [[thrombophilia]]: up to 39% develop venous thromboses <ref>Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995 Nov 9;333(19):1253-8.</ref> and 12% may acquire Budd-Chiari. <ref>Socie G, Mary JY, de Gramont A, Rio B, Leporrier M, Rose C, Heudier P, Rochant H, Cahn JY, Gluckman E. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology. Lancet. 1996 Aug 31;348(9027):573-7. </ref>
| | ==[[Budd-Chiari syndrome screening|Screening]]== |
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| A related condition is [[veno-occlusive disease]], which occurs in recipients of [[bone marrow transplant]]s as a complication of their medication. Although its mechanism is similar, it is not considered a form of Budd-Chiari syndrome.
| | ==[[Budd-Chiari syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| ==Pathophysiology== | | ==Diagnosis== |
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| Any obstruction of the [[vein|venous]] vasculature of the liver is referred to as Budd-Chiari syndrome, from the [[venule]]s to the [[right atrium]]. This leads to increased portal vein and hepatic sinusoid pressures as the blood flow stagnates. The increased portal pressure causes: 1) increased filtration of vascular fluid with the formation of protein-rich ascites in the abdomen; and 2) collateral venous flow through alternative veins leading to gastric varices and hemorrhoids. Obstruction also causes hepatic necrosis and eventual centrilobular fibrosis due to ischemia. Renal failure may occur, perhaps due to the body sensing an "underfill" state and subsequent activation of the renin-angiotensin pathways and excess sodium retention.
| | [[Budd-Chiari syndrome history and symptoms|History and Symptoms]] | [[Budd-Chiari syndrome physical examination|Physical Examination]] | [[Budd-Chiari syndrome laboratory findings|Laboratory Findings]] | [[Budd-Chiari syndrome electrocardiogram|Electrocardiogram]] | [[Budd-Chiari syndrome x ray|X Ray]] | [[Budd-Chiari syndrome CT|CT]] | [[Budd-Chiari syndrome MRI|MRI]] | [[Budd-Chiari syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Budd-Chiari syndrome other imaging findings|Other Imaging Findings]] | [[Budd-Chiari syndrome other diagnostic studies|Other Diagnostic Studies]] |
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| == Diagnosis ==
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| === Symptoms ===
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| * Severe upper [[abdominal pain]]
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| * [[Jaundice]]
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| * [[Encephalopathy]]
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| The fulminant syndrome presents early with encephalopathy and ascites. An asymptomatic form may be totally silent and discovered only incidentally. It is generally not concerning.
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| === Physical Examination ===
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| * [[Hepatomegaly]] (enlarged[[liver]])
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| * [[Ascites]]
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| === Laboratory Findings ===
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| When Budd-Chiari syndrome is suspected, measurements are made of
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| * [[Liver enzyme]] levels
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| * [[Creatinine]]
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| * [[Urea]]
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| * [[Electrolyte]]s
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| * [[lactate dehydrogenase|LDH]]).
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| * [[Liver biopsy]] is nonspecific but sometimes necessary to differentiate between Budd-Chiari syndrome and other causes of hepatomegaly and ascites, such as [[galactosemia]] or [[Reye's syndrome]]
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| * Severe hepatic [[necrosis]] and [[lactic acidosis]] may be present as well. Caudate lobe hypertrophy is often present. The majority of patients have a slower-onset form of Budd-Chiari syndrome. This can be painless. Patients may progress to [[cirrhosis]] and show the signs of liver failure.
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| === Ultrasound ===
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| Budd-Chiari syndrome is most commonly diagnosed using [[medical ultrasonography|ultrasound]] studies of the [[abdomen]] and retrograde [[angiography]]). | |
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| * A system of venous collaterals may form around the occlusion which may be seen on imaging as a "spider's web."
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| * Obliteration of hepatic veins, thrombosis or stenosis, spiderweb vessels, large collateral vessels, or a hyperechoic cord replacing a normal vein.
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| ==CT and MRI==
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| [[Computed tomography]] (CT) or [[magnetic resonance imaging]] (MRI) is sometimes employed although these methods are generally not as sensitive.
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| ==Prognosis==
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| Several studies have attempted to predict the survival of patients with Budd-Chiari syndrome. In general, nearly 2/3 of patients with Budd-Chiari survive 10 years. <ref name="Murad">Murad SD, Valla DC, de Groen PC, Zeitoun G, Hopmans JA, Haagsma EB, van Hoek B, Hansen BE, Rosendaal FR, Janssen HL Determinants of survival and the effect of portosystemic shunting in patients with Budd-Chiari syndrome. Hepatology. 2004 Feb;39(2):500-8.</ref> Important negative prognostic indicators include ascites, encephalopathy, elevated [[Child-Pugh score]]s, elevated [[prothrombin time]], and altered serum levels of various substances ([[sodium]], [[creatinine]], [[serum albumin|albumin]], and [[bilirubin]]). Survival is also highly dependent on the underlying cause of the Budd-Chiari syndrome. For example, patients with [[myeloproliferative disorder]]s may progress to acute leukemia despite treatment for Budd-Chiari syndrome.
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| ==Treatment== | | ==Treatment== |
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| A minority of patients can be treated medically with [[sodium]] restriction, [[diuretics]] to control ascites, anticoagulants such as [[heparin]] and [[warfarin]], and general symptomatic management. The majority of patients require further intervention. Milder forms of Budd-Chiari may be treated with surgical shunts to divert blood flow around the obstruction or the liver itself. Shunts must be placed early after diagnosis for best results. <ref name="Murad"> reference</ref> The [[transjugular intrahepatic portosystemic shunt]] (TIPS) is similar to a surgical shunt. It accomplishes the same goal but has a lower procedure-related mortality, which has led to a growth in its popularity. Patients with stenosis or vena caval obstruction may benefit from [[angioplasty]]. <ref>Fisher NC, McCafferty I, Dolapci M, Wali M, Buckels JA, Olliff SP, Elias E. Managing Budd-Chiari syndrome: a retrospective review of percutaneous hepatic vein angioplasty and surgical shunting. Gut. 1999 Apr;44(4):568-74.</ref> Limited studies on [[thrombolysis]] with direct infusion of [[urokinase]] and [[tissue plasminogen activator]] (tPA) into the obstructed vein have shown moderate success in treating Budd-Chiari syndrome; however, it is not routinely attempted.
| | [[Budd-Chiari syndrome medical therapy|Medical Therapy]] | [[Budd-Chiari syndrome surgery|Surgery]] | [[Budd-Chiari syndrome primary prevention|Primary Prevention]] | [[Budd-Chiari syndrome secondary prevention|Secondary Prevention]] | [[Budd-Chiari syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Budd-Chiari syndrome future or investigational therapies|Future or Investigational Therapies]] |
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| [[Liver transplantation]] is an effective treatment for Budd-Chiari. It is generally reserved for patients with fulminant hepatic failure, failure of shunts, or progression of cirrhosis that reduces the life expectancy to 1 year. <ref>Orloff MJ, Daily PO, Orloff SL, Girard B, Orloff MS. A 27-year experience with surgical treatment of Budd-Chiari syndrome. Ann Surg. 2000 Sep;232(3):340-52.</ref> Long-term survival after transplantation ranges from 69-87%. The most common complications of transplant include rejection, arterial or venous thromboses, and bleeding due to anticoagulation. Up to 10% of patients may have a recurrence of Budd-Chiari syndrome after the transplant. | | ==Case Studies== |
| | [[Budd-Chiari syndrome case study one|Case #1]] |
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| | {{Gastroenterology}} |
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| ==External links==
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| * [http://www.merck.com/mmhe/sec10/ch138/ch138d.html Budd-Chiari Syndrome] - [[Merck Manual]]
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| ==References==
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| {{Reflist|2}}
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| {{SIB}}
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| {{Gastroenterology}}
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| {{Circulatory system pathology}} | | {{Circulatory system pathology}} |
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