Clinical presentation ranges from asymptomatic courses to liver failure, and considerable differences may be observed between patients of distinct races:

• In Caucasians, thrombosis of hepatic veins is the main cause of BCS and because thrombus formation may take several weeks or months, symptoms progressively worsen over time. Consequently, portal hypertension and liver cirrhosis are the hallmarks of severe BCS in these patients. In the rare event of acute occlusion of a major vessel, fulminant liver failure may be induced. Thrombosis-related BCS may be observed in patients of any age, but incidence rates increase with age.
• In Africans and Asians, developmental defects associated with membranous obstruction of hepatic vessels or IVC are much more common. Disease progression is less frequently noted and in case of moderate to severe BCS, symptoms manifest early in life.

Irrespective of the underlying disease, symptoms and signs indicating hepatic insufficiency may be registered:

• Abdominal pain
• Hepatomegaly
• Jaundice
• Ascites and peripheral edema
• Varicose vein and varicose ulcer
• Hepatorenal syndrome

According to the time course of outflow obstruction, symptom onset may be fulminant, acute, subacute or chronic. The latter is most common.

• Splenomegaly

  Causes of Portal Hypertension Prehepatic Portal vein thrombosis Splenic vein thrombosis Massive splenomegaly Intrahepatic Schistosomiasis Congenital hepatic fibrosis Cirrhosis Alcoholic hepatitis Venoocclusive syndrome Posthepatic Constrictive pericarditis [uscmedicine.blog]

  The Ultrasound scans show no flow in hepatic veins, compressed IVC, enlarged caudate lobe, splenomegaly and varices at the splenic hilum. [emedicine.com]

  Splenomegaly. Cholecystectomy. Adrenal glands, kidney and pancreas have a normal appearance. No free fluid or free gas. Bilateral pleural effusions, larger on the left. Minor bibasal atelectasis. [radiopaedia.org]

  History and exam Key diagnostic factors presence of risk factors right upper quadrant abdominal pain hepatomegaly ascites jaundice More key diagnostic factors Other diagnostic factors splenomegaly gastrointestinal bleeding leg oedema truncal venous collaterals [bestpractice.bmj.com]

• Inflammation

  Microscopic findings revealed micronodular cirrhosis with mixed inflammation in the portal areas. Some liver lobules exhibited congestion and sinusoidal dilation compatible with venous occlusion clinically. [ncbi.nlm.nih.gov]

  Phlebitis — Inflammation of a vein. Polycythemia vera — An excess number of red blood cells in the blood. Sickle cell anemia — An inherited disease in which red blood cells take an unusual shape, leading to circulation problems. [encyclopedia.com]

  […] or chronic: acute: results from an acute thrombosis of the main hepatic veins or the inferior vena cava; patients may present with rapid onset ascites chronic: the chronic form is related to fibrosis of the intrahepatic veins, presumably related to inflammation [radiopaedia.org]

  portal inflammation, pericentral fibrosis, periportal fibrosis and/or cirrhosis in the most severe cases. [casereports.bmj.com]

• Sepsis

  The patient died from rapidly progressing sepsis, pneumonia, and acute renal failure during repeated insertion of ECMO and weaning off ECMO. [ncbi.nlm.nih.gov]

  The patient was hospitalized elsewhere for hepatic encephalopathy and sepsis. He had been tapped repeatedly for ascites but had felt no relief. Caption: Oblique scans of the liver Description: The right and middle hepatic veins are visualized here. [sonoworld.com]

  Protein C and S deficiencies Antithrombin III deficiency Inflammatory bowel disease Behçet syndrome Vena caval webs: more common in Asians Idiopathic membranous stenosis of inferior vena cava (IVC) Compression of the hepatic veins: HCC Abscess or cysts; sepsis [unboundmedicine.com]

  However, 25% arise from external compression that results in obstruction: idiopathic (one-third of cases) congenital hepatic vein or inferior vena cava webbing interruption of the diaphragm venous thrombosis secondary to dehydration sepsis polycythemia [radiopaedia.org]

• Fever

  We encountered an APS patient on warfarin therapy who was admitted with fever and acute abdomen. [hindawi.com]

  A 30-year-old female patient with HIV/AIDS and CKD on hemodialysis was admitted to the emergency room for complaints of fever, prostration, and headache in the last six days. She had a tunneled dialysis catheter placed at the left jugular vein. [ncbi.nlm.nih.gov]

  such as Ebola, Lassa fever, and Lábrea fever, may kill in as little as two to five days. [en.wikipedia.org]

  The following day, the patient still had intermittent abdominal distension, abdominal pain, and fever with slightly elevated inflammatory indicators (PCT, CPR, WBC, etc.) as well as jaundice. [frontiersin.org]

  In the history, when he was 6 years old investigated with abdominal pain, ascites and fever. [panafrican-med-journal.com]

• Anorexia

  He additionally notes that his urine was significantly darker with associated nausea/vomiting, anorexia and generalized weakness/fatigue. [uscmedicine.blog]

  The commonest symptoms at diagnosis were abdominal distension, lethargy, and anorexia. Abdominal pain was present in 2 of them. [journals.lww.com]

  […] infections Non infectious complications Nutrition in specific situations Cancer COPD Diabetes mellitus Geriatrics Heart failure HIV IBD Intensive care Liver failure Pancreatitis Renal failure Surgery Miscellaneous B12 Folate deficiency Hypocalcemia Obesity Anorexia [gastrotraining.com]

  He denied nausea, vomiting, fever, malaise, anorexia, choluria, or acholia. The patient was haemodynamically stable, without fever. [karger.com]

• Leg Edema

  A 36-year-old female patient with known Behcet's disease presented with abdominal distention, leg edema, and abnormal liver function tests. Nonenhanced in-phase T2WI shows heterogeneity of the liver parenchyma. [emedicine.com]

  On physical examination, her abdomen was mildly distended and pitting edema was noted on both lower legs. [kjim.org]

  Introduction A 33-year-old Saudi housewife presented with a six-week history of upper abdominal pain of sudden onset, progressive abdominal distention, and edema of the legs accompanied by mild jaundice. [annsaudimed.net]

• Dyspnea

  […] may bleed massively but cause no... read more, massive ascites, splenomegaly, hepatopulmonary syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome is hypoxemia caused by pulmonary microvascular vasodilation in patients with portal hypertension; dyspnea [msdmanuals.com]

  Dyspnea was found in one patient due to pleural effusion and this symptom disappeared after effective drainage. One patient developed acute cerebral infarction during hospitalization, but recovered and was discharged after treatment (Table 3 ). [nature.com]

• Abdominal Pain

  The majority of patients with the Budd-Chiari syndrome present with evidence of rapidly developing abdominal pain, hepatomegaly, and ascites with distension. The pain is presumably caused by distension of the liver capsule or abdominal distension. [gpnotebook.com]

  We describe a case of Budd-Chiari syndrome visualized via F-FDG PET/CT in a 60-year-old woman with medical history of B-cell non-Hodgkin lymphoma who presented with abdominal pain. [ncbi.nlm.nih.gov]

  Budd‑Chiari syndrome (BCS) is a rare disorder clinically characterized by abdominal pain, hepatomegaly and ascites. The condition is often related to thrombosis of the hepatic veins or the terminal portion of the inferior vena cava. [spandidos-publications.com]

  It presents with the classical triad of abdominal pain, ascites, and liver enlargement. The formation of a blood clot within the hepatic veins can lead to Budd– Chiari syndrome. The most common cause is polycythemia vera. [osmosis.org]

  pain 2005 0 None 11 APC resistance and AT III deficiency Abdominal pain and ascites 2004 0 Atrial septal defect 12 Unknown Abdominal pain 1993 48 None 13 Oestrogen medication Abdominal pain and ascites 2007 0 None OLT Group 1 Polycythemia vera Abdominal [bmcgastroenterol.biomedcentral.com]

• Vomiting

  He additionally notes that his urine was significantly darker with associated nausea/vomiting, anorexia and generalized weakness/fatigue. [uscmedicine.blog]

  We report a case of Budd-Chiari syndrome in association with large solitary FNH in a 22-year-old man who was referred to our institution with sudden intermittent right upper quadrant abdominal pain, vomiting, diarrhea with pale stool, decreased appetite [ncbi.nlm.nih.gov]

  Additional symptoms include vomiting and a yellow discoloration of the skin and whites of the eyes (jaundice). Severe liver failure is rare. [msdmanuals.com]

  Clinical symptoms include hepatomegaly, sudden abdominal epigastric pain with nausea and vomiting, and ascites. [whonamedit.com]

  Vomiting blood is a medical emergency. [diagnose-me.com]

• Nausea

  He additionally notes that his urine was significantly darker with associated nausea/vomiting, anorexia and generalized weakness/fatigue. [uscmedicine.blog]

  Clinical symptoms include hepatomegaly, sudden abdominal epigastric pain with nausea and vomiting, and ascites. [whonamedit.com]

  While some patients with this liver condition don’t report any symptoms, others experience symptoms that usually worsen or become increasingly apparent over the course of weeks or months, including: Pain in the upper right section of the abdomen Nausea [tgh.org]

  BCS clinical manifestations greatly varied, including lack of appetite, nausea and vomiting, abdominal distension, ascites, large liver, jaundice, fatigue, scrotum, and lower limb edema (6, 7). [frontiersin.org]

  Some people have no symptoms, but others experience fatigue, abdominal pain, nausea, and jaundice. Fluid may accumulate in the abdomen, the spleen may enlarge, and sometimes severe bleeding occurs in the esophagus. [msdmanuals.com]

• Abdominal Distension

  The majority of patients with the Budd-Chiari syndrome present with evidence of rapidly developing abdominal pain, hepatomegaly, and ascites with distension. The pain is presumably caused by distension of the liver capsule or abdominal distension. [gpnotebook.com]

  CC: progressive abdominal distension ID: 70 y/o male with PMH hypertension and hyperlipidemia, previously in excellent health who presents with progressive abdominal distention that started 3 months prior. [uscmedicine.blog]

  The following day, the patient still had intermittent abdominal distension, abdominal pain, and fever with slightly elevated inflammatory indicators (PCT, CPR, WBC, etc.) as well as jaundice. [frontiersin.org]

  This is the youngest reported patient diagnosed with PV and BCS secondary to JAK V617F mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. [ncbi.nlm.nih.gov]

• Right Upper Quadrant Pain

  Eight months later, she presented with jaundice and right upper quadrant pain. CT revealed multiple focal lesions in the liver, which on biopsy proved to be hepatic hemangioendothelioma (HHE). Her liver disease and ascites progressively increased. [ncbi.nlm.nih.gov]

  Symptoms and Signs of Budd-Chiari Syndrome Acute obstruction (in about 20%) causes fatigue, right upper quadrant pain, nausea, vomiting, mild jaundice, tender hepatomegaly, and ascites. It typically occurs during pregnancy. [msdmanuals.com]

  Acute obstruction (in about 20%) causes fatigue, right upper quadrant pain, nausea, vomiting, mild jaundice, tender hepatomegaly, and ascites. It typically occurs during pregnancy. Fulminant liver failure with encephalopathy is rare. [merckmanuals.com]

  Presentation can be sudden with right upper quadrant pain and rapidly developing ascites, hepatomegaly, jaundice and acute kidney injury (± fulminant hepatic failure ± hepatic coma). [patient.info]

• Thrombosis

  Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives. A case-control study. Gastroenterology 1986; 90: 807-11. Bismuth E, Hadengue A, Hammel P, Benhamou JP. Hepatic vein thrombosis in Behcet’s disease. [latunisiemedicale.com]

  Chawla YK, Bodh V; Portal vein thrombosis. J Clin Exp Hepatol. 2015 Mar5(1):22-40. doi: 10.1016/j.jceh.2014.12.008. Epub 2015 Jan 6. [patient.info]

  KEYWORDS: Budd-Chiari syndrome; Portal vein thrombosis; epidemiology; mortality [Indexed for MEDLINE] Free full text [ncbi.nlm.nih.gov]

  Leebeek and Moniek P.M. de Maat, Hypercoagulability and Hypofibrinolysis and Risk of Deep Vein Thrombosis and Splanchnic Vein Thrombosis, Arteriosclerosis, Thrombosis, and Vascular Biology, 10.1161/ATVBAHA.110.213371, 31, 3, (485-493), (2011). [doi.org]

• Hepatomegaly

  Last reviewed 05/2021 Originally Budd-Chiari syndrome was characterised by hepatomegaly } caused by thrombosis ascites and } of the hepatic abdominal pain } veins It is now used to describe thromboses within the hepatic vein, including the adjacent inferior [gpnotebook.com]

  CT scan of the abdomen confirmed the presence of hepatomegaly and a nutmeg appearance of the liver after the administration of the contrast substance. [spandidos-publications.com]

  Classic triad of symptoms is abdominal pain, ascites, and hepatomegaly. Seventy-five per cent of patients have at least one underlying hypercoagulable state. Colour and pulsed Doppler ultrasonography is the first-line investigation for diagnosis. [bestpractice.bmj.com]

  Chronic outflow obstruction (developing over months) may cause few or no symptoms until it progresses, or it may cause fatigue, abdominal pain, and hepatomegaly. [msdmanuals.com]

• Jaundice

  Jaundice is usually absent. aetiology clinical features investigations differential diagnosis treatment and prognosis [gpnotebook.com]

  Budd-Chiari syndrome (BCS) is also rare and presents with ascites, abdominal pain, hepatomegaly, leg swelling, and jaundice. Its etiology is diverse, and it is rarely caused by trauma. [ncbi.nlm.nih.gov]

  Resumen We report two cases of patients, that had a clinical feature, with jaundice, headache, and sensorial compromise, swelling of low extremities and ascites. [upch.edu.pe]

  Patients present with ascites (fluid accumulation in the abdomen), painful liver enlargement, jaundice and renal failure. [medindia.net]

  Keywords : Angioplasty, Budd-Chiari Syndrome, Dilatation, Jaundice, Warfarin. [casereports.in]

• Liver Dysfunction

  dysfunction Membranous obstruction of the vena cava / obliterative hepatocavopathy likely represents recanalized thrombosis, more commonly seen in developing countries Epidemiology Occurs in roughly 0.001% of the population Sites Occlusion may occur [pathologyoutlines.com]

  She had no past medical history, including no history of liver dysfunction. On physical examination, yellowish palpebral conjunctiva and pitting oedema were found in both legs. [casereports.in]

  Congestive hepatopathy, is liver dysfunction due to venous congestion, usually due to congestive heart failure. [en.wikipedia.org]

  However, such shunts increase the risk of hepatic encephalopathy (deterioration of brain function due to liver dysfunction). Also, shunts occasionally become blocked, especially in people who have a tendency to form blood clots. [msdmanuals.com]

• Encephalopathy

  […] necropsy had shown in both cases, renal clear cell carcinoma, with tumoral trombosis of the renal vein, inferior cava vein and superior hepatics veins; that provoked post hepatic portal hypertension with necrosis centrilobular, bleeding and hepatic encephalopathy [upch.edu.pe]

  Surgical or endovascular treatment for SIPSVS was not carried out because the patient was asymptomatic and remained asymptomatic in terms of encephalopathy at a 1-year follow-up. [ncbi.nlm.nih.gov]

  Four of five patients who died had hepatic encephalopathy and 2/5 were receiving renal support prior to surgery. [doi.org]

  He was started on empiric antibiotics, prophylaxis for deep venous thrombosis, lactulose and rifaximin for hepatic encephalopathy, and prednisolone for alcoholic hepatitis. [journals.lww.com]

• Kidney Failure

  She presented with progressive liver failure, acute kidney failure, acute respiratory failure, and encephalopathy stage IV. Multidisciplinary therapy was initiated with IV anti-infective drugs and optimizing mechanical ventilation. [ncbi.nlm.nih.gov]

  Kidney failure may occur, perhaps due to the body sensing an "underfill" state and subsequent activation of the renin-angiotensin pathways and excess sodium retention.[16] Diagnosis[edit] When Budd–Chiari syndrome is suspected, measurements are made of [en.wikipedia.org]

• Renal Insufficiency

  The principal manifestations of BCS are ascites (which is often massive and intractable) leading to undernutrition and renal insufficiency, gastrointestinal hemorrhage due to portal hypertension, and hepatic insufficiency resulting in encephalopathy and [orpha.net]

  Renal Insufficiency. LMWH requires dose adjustment in patients with severe renal impairment (creatinine clearance less than 30ml/minute/1.73m2). [cancertherapyadvisor.com]

  Renal Insufficiency. LMWH requires dose adjustment in patients with severe renal impairment (creatinine clearance less than 30ml/minute/1.73m 2 ). [clinicaladvisor.com]

On the one hand, confirmation of a tentative diagnosis of BCS requires the identification and localization of hepatic outflow obstructions. On the other hand, the underlying disease should be determined. As has been indicated above, myeloproliferative and coagulation disorders account for the majority of BCS cases and more than 75% of BCS patients suffers from at least one of those diseases. They may or may not manifest in form of additional symptoms.

Occluded vessels may be depicted by means of diagnostic imaging. Doppler ultrasonography is the technique of choice: It is sensitive, specific, readily available and of low cost [10]. It is not only used for diagnosis, but also for the assessment of response to thrombolytic therapy. However, computed tomography screens or magnetic resonance imaging are carried out in many cases in order to better evaluate the condition of the patient's liver, to identify necrotic or ischemic areas, and to rule out hepatic neoplasms. In contrast, a reliable diagnosis of liver cirrhosis requires the histopathological analysis of a liver biopsy sample.

Furthermore, coagulation tests, laboratory analyses of blood samples and possibly ascites fluid should be realized. The following results are to be expected in BCS patients:

• Elevated serum levels of aspartate and alanine aminotransferases, especially in cases of acute obstruction of hepatic outflow
• Bilirubinemia
• Hypoalbuminemia
• High protein content in ascites fluid (> 25 g/l), but low amounts of leukocytes

Diagnosis of myeloproliferative disorders is often supported by an analysis of bone marrow biopsy specimens. Genetic screens may be required to confirm a suspicion of hereditary disorders.

• Colitis

  This review examines three extraintestinal complications of ulcerative colitis, including the presentation, diagnosis, and treatment. [ncbi.nlm.nih.gov]

  If a patient is diagnosed with Budd-Chiari syndrome, look for any underlying cause or associated conditions such as PV, PNH, ulcerative colitis, Behcet’s disease, oral contraceptive use, or masses causing compression on the hepatic vein (HCC, aneurysms [uscmedicine.blog]

  […] differential Extraintestinal manifestations Pregnancy Lactation and IBD Surveillance Ulcerative colitis Introduction To UC Acute colitis Pouchitis Colitis and PSC Surgery in UC Crohn’s disease Introduction To CD Diagnosis Perianal Fistulising disease [gastrotraining.com]

  Its most frequent uses are those in the field of medicine, and there are several diseases described by this adjective: Fulminant liver failure Fulminant colitis Fulminant pre-eclampsia Fulminant meningitis Purpura fulminans Fulminant hepatic venous thrombosis [en.wikipedia.org]

• Hepatocellular Carcinoma

  On ultrasonographic and alpha-fetoprotein criteria the case was interpreted as hepatocellular carcinoma with Budd-Chiari syndrome. The particularity of the case is the initial presentation of the hepatocellular carcinoma as Budd-Chiari syndrome. [ncbi.nlm.nih.gov]

  […] from hepatitis B virus-associated hepatocellular carcinoma. [bmcgastroenterol.biomedcentral.com]

  Cirrhosis and the aetiology of hepatocellular carcinoma. J Hepatol 4:140–1471987. 2. Schafer DF, Sorrell MF. Hepatocellular carcinoma. Lancet 353:1253–12571999. 3. Okuda H, Yamagata H, Obata H, Iwata H, Sasaki R, Imai F, Okudaira M, Ohbu M, Okuda K. [kjim.org]

Patients diagnosed with hepatic vein thrombosis and coagulation disorders are often treated by administration of fibrinolytics (e.g., streptokinase, urokinase and recombinant tissue-type plasminogen activator) or anticoagulants (e.g., heparin and warfarin). However, empiric evidence shows that sole drug therapy is frequently insufficient in patients with complete vessel obstruction [11]. Patients diagnosed with partial occlusion of hepatic veins may be cured this way, but it is strongly recommended to assure their response to therapy by means of sonographic follow-ups.

More invasive therapeutic measures need to be applied in the majority of patients. Recanalization may be achieved by means of percutaneous transhepatic balloon angioplasty or stenting. Such measures may need to be repeated. If venous outflow cannot be restored either way, symptoms are likely to progressively worsen. Eventually, patients present with decompensated liver cirrhosis and hepatic failure. An organ transplant may be their only remaining option [10].

For patients suffering from portal hypertension, transhepatic or transcaval placement of a transjugular intrahepatic portacaval shunt (TIPS) should be considered. Liver failure and ascites are often associated with sodium overloads, although these are not necessarily reflected in decreased serum concentrations of sodium. Thus, patients should be advised to maintain a low-sodium diet.

Additionally, appropriate treatment of the underlying disease is necessary.

BCS is a potentially life-threatening disease and if left untreated, obstruction of major hepatic veins or IVC may eventually lead to liver failure. Other patients may remain asymptomatic for years. An individual patient's prognosis depends on the affected vessel and the degree of occlusion. Distinct scoring systems have been developed to predict the outcome [9]. In this context, the presence of encephalopathy or ascites, and - to a lower degree - hypercoagulability, bilirubinemia or old age have been identified as unfavorable prognostic factors. If a patient requires a liver transplant but the transplantation cannot be carried out, patients benefit from surgical shunting. To date, the 5-year-survival rate is between 80 and 90% [10].

Retrospective studies revealed that the vast majority of BCS patients presents with underlying myeloproliferative or coagulation disorders, and this observation may tempt to state that BCS should be classified as a possible complication of any of those diseases [2]. If this is the case, both etiology and pathogenesis of BCS are to be expected to be heterogeneous.

In detail, the following disorders have been related to BCS:

• Hematologic disorders, e.g., paroxysmal nocturnal hemoglobinuria, promyelocytic leukemia, any other form of thrombophilia and polycythemia
• Impaired fibrinolysis [2]
• Coagulation disorders like antiphospholipid syndrome, antithrombin III deficiency, factor II mutation, Leiden factor V mutation, protein C deficiency, protein S deficiency, most of them being genetic diseases
• Drug-induced and physiological hypercoagulable states, e.g., use of oral contraceptives and pregnancy
• Infectious diseases affecting the liver, e.g., amebiasis [3]
• Inflammatory bowel disease
• Abdominal trauma
• Neoplasms infiltrating hepatic veins or IVC

Only minor shares of patients suffering from any one of the aforementioned diseases develops BCS. A person's individual risk of BCS largely increases if more than one risk factor co-occur and indeed, about one fourth of BCS patients is diagnosed with at least two of them. However, in some patients, no underlying disease nor trigger of hepatic vein thrombosis can be identified. Here, either subclinical pathologies or as of yet unknown factors must be involved in BCS etiology.

BCS is considered a very disease. According to a retrospective study conducted in Sweden, the annual incidence is 0.8 per 1,000,000 inhabitants, and prevalence amounts to 1.4 per 1,000,000 people [4]. Here, most BCS patients were found to suffer from myeloproliferative disorders, often in addition to other predisposing diseases. In contrast, developmental defects associated with membranous obstruction of hepatic veins or IVC has been reported to be the most common cause of BCS in patients of African and Asian descent [5].

As per definition, BCS is associated with thrombotic or non-thrombotic obstruction of hepatic veins or IVC.

A variety of conditions predisposes for excess formation of thrombi or reduced fibrinolysis. Diseases like paroxysmal nocturnal hemoglobinuria and promyelocytic leukemia often underly BCS and constitute systemic disorders. Thus, thrombi may form in any vessel, in hepatic as well as extra-hepatic ones [6] [7]. This may explain why only few patients suffering from those diseases develop BCS, despite thrombosis being a dreaded complication of both. However, lesions of hepatic veins inflicted by pathogens, neoplasms or mechanical forces render those vessels particularly susceptible to thrombosis, and it is thus little surprising that many BCS patients are diagnosed with more than one causative pathology.

Irrespective of whether or not hepatic vein thrombosis is triggered by identifiable factors, it does provoke congestion of the liver and portal hypertension. The severity of hepatic damage mainly depends on the affected vessel and on the extent of outflow obstruction. Upon hemorrhagic infarction, i.e., if blood cannot be drained from parts of the liver, affected cells undergo necrosis. Uninvolved lobes of the liver may become hypertrophic in order to compensate for lost tissues, but this process may not protect from liver failure if large parts of the organ are affected.

Over time, thrombi are reorganized and partially replaced by fibrotic tissue. If BCS is not diagnosed before this stage of the disease, fibrous cords or membrane-like structures may be the only recognizable remnants of thrombi in recanalized vessels. Accordingly, conditions like membranous obstruction of the IVC may rather correspond to advanced stages of vein thrombosis than to the result of distinct pathophysiological processes. Nevertheless, the possibility of obliterative hepatocavopathy due to developmental defects should also be considered, particularly in blacks and Asians and if no hypercoagulable state can be detected [8].

No specific measures can be recommended to prevent BCS. However, patients who are diagnosed with any of those diseases predisposing for BCS are strongly advised to comply with treatment regimes to reduce their individual risk for thrombosis of hepatic veins or IVC.

Budd-Chiari syndrome (BCS) is a rare disease of heterogeneous etiology. Accordingly, diagnosis of BCS is based on clinical parameters: Affected individuals present with hepatomegaly, jaundice, ascites and peripheral edema due to thrombotic or non-thrombotic obstruction of hepatic veins; they generally suffer from myeloproliferative or coagulation disorders. Besides hepatic veins, the hepatic portion of the inferior vena cava (IVC) may also be affected [1].

Hepatic outflow obstructions and symptoms associated with BCS have first been described by George Budd, an English internist, and Hans Chiari, an Austrian pathologist, in the late nineteenth century. Since then, more detailed descriptions of different forms of BCS, e.g., thrombotic occlusion of intrahepatic veins or membranous obstruction of the IVC, have become available.

Presumably, both genetic and environmental factors play major roles in BCS pathogenesis. This hypothesis has been deducted from the observation that the majority of BCS patients presents with additional diseases whose etiology is better understood: Leiden factor V mutation and factor II mutation are hereditary disorders, and promyelocytic leukemia as well as infectious diseases can also be ascribed to defined causes. Precise diagnostic guidelines have not yet been established and since BCS generally occurs as a comorbidity, hepatic outflow obstructions may or may not be diagnosed as BCS.

Budd-Chiari syndrome (BCS) is a rare disease caused by hepatic outflow obstructions, i.e., those vessels draining blood from the liver are partially or completely occluded in affected individuals. This condition does provoke congestion, portal hypertension and eventually liver failure.

In most Caucasian patients, blood clots that occlude the respective vessel account for outflow obstructions. Different physiological and pathological conditions may be associated with excess formation of thrombi, e.g., myeloproliferative disorders (paroxysmal nocturnal hemoglobinuria, promyelocytic leukemia, polycythemia), hereditary coagulation disorders (factor II mutation, Leiden factor V mutation, protein C deficiency, protein S deficiency), drug-induced hypercoagulability due to use of oral contraceptives, and pregnancy. In contrast, African and Asian BCS patients often suffer from developmental defects leading to membranous obstruction of hepatic veins.

Irrespective of the underlying pathology, BCS patients experience symptoms of hepatic insufficiency. If small vessels are only partially occluded, these symptoms may not even be noted. In contrast, complete occlusion of major vessels may provoke the sudden onset of symptoms indicating life-threatening, fulminant liver failure. The following may be noted:

• Abdominal pain
• Hepatomegaly
• Jaundice
• Accumulation of fluid in the peritoneal cavity (ascites), swollen ankles and feet (peripheral edema)
• Varicose vein and varicose ulcer

BCS may be diagnosed by means of Doppler ultrasonography. Additional diagnostic measures may be required to assess the condition of hepatic tissue and to identify the underlying disease. To this end, more sophisticated diagnostic techniques, coagulation tests as well as laboratory analyses of blood samples and ascites fluid may be carried out.

In rare, uncomplicated cases, recanalization of the occluded vessel may be achieved by administrating fibrinolytics and anticoagulants. However, most patients require more invasive therapy. Hepatic outflow may be reestablished by means of balloon angioplasty or stenting, and portal hypertension may be diminished by placing a portacaval shunt. Still, not all patients respond to these therapeutic approaches and for some of them, a liver transplant may be their only remaining option.

1. Shin N, Kim YH, Xu H, et al. Redefining Budd-Chiari syndrome: A systematic review. World J Hepatol. 2016; 8(16):691-702.
2. Hoekstra J, Guimaraes AH, Leebeek FW, et al. Impaired fibrinolysis as a risk factor for Budd-Chiari syndrome. Blood. 2010; 115(2):388-395.
3. Méchaï F, Aoun O, Ficko C, Barruet R, Imbert P, Rapp C. Budd-Chiari syndrome as a vascular complication of amebic liver abscess. Am J Trop Med Hyg. 2009; 81(5):768-769.
4. Rajani R, Melin T, Bjornsson E, et al. Budd-Chiari syndrome in Sweden: epidemiology, clinical characteristics and survival - an 18-year experience. Liver Int. 2009; 29(2):253-259.
5. Lee BB, Villavicencio L, Kim YW, et al. Primary Budd-Chiari syndrome: outcome of endovascular management for suprahepatic venous obstruction. J Vasc Surg. 2006; 43(1):101-108.
6. Hill A, Kelly RJ, Hillmen P. Thrombosis in paroxysmal nocturnal hemoglobinuria. Blood. 2013; 121(25):4985-4996; quiz 5105.
7. Rashidi A, Silverberg ML, Conkling PR, Fisher SI. Thrombosis in acute promyelocytic leukemia. Thromb Res. 2013; 131(4):281-289.
8. Okuda K. Obliterative hepatocavopathy-inferior vena cava thrombosis at its hepatic portion. Hepatobiliary Pancreat Dis Int. 2002; 1(4):499-509.
9. Montano-Loza AJ, Tandon P, Kneteman N, Bailey R, Bain VG. Rotterdam score predicts early mortality in Budd-Chiari syndrome, and surgical shunting prolongs transplant-free survival. Aliment Pharmacol Ther. 2009; 30(10):1060-1069.
10. Martens P, Nevens F. Budd-Chiari syndrome. United European Gastroenterol J. 2015; 3(6):489-500.
11. Klein AS. Management of Budd-Chiari syndrome. Liver Transpl. 2006; 12(11 Suppl 2):S23-28.