Budd Chiari Syndrome: ED Presentation, Evaluation, and Management

Authors: Rukayat Balogun, MD (Transition Year Resident, San Antonio, TX) and Josh Oliver, MD (EM Attending Physician, San Antonio, TX) // Edited by: Alex Koyfman, MD (@EMHighAK) and Brit Long, MD (@long_brit)

The views expressed are those of the authors and do not reflect the official views or policy of the Department of Defense or its Components.

 

A 46-year-old female presents to your ED with a complaint of abdominal pain and fullness. She said this started about two weeks ago and has been getting worse. She describes the pain as dull, achy, and constant that localizes to the right upper quadrant. Review of systems reveals a 15-pound weight gain over the same time period. Most of her family is healthy and still living, but one of her sisters takes a medication to prevent blood clots. She denies drinking alcohol. Physical exam reveals a positive fluid wave.1

What is your leading diagnosis; what should your next steps in treatment be?

Answer: Budd-Chiari syndrome

Introduction

The liver is one of the most metabolically active organs in our body, and as such it is particularly susceptible to vascular insults. In Budd-Chiari syndrome (BCS), obstruction of the liver circulation usually occurs at the level of the hepatic veins and inferior vena cava.2 Presentation of the syndrome may be fulminant, acute, subacute, or chronic.2, 12 Fulminant BCS can be defined by severe and rapid onset of right upper quadrant pain, hepatomegaly, ascites, coagulopathy, and encephalopathy; it typically involves blockage of all hepatic veins at the same time.  BCS of acute onset presents similarly to fulminant but is less severe and rapid in onset as it may take weeks to develop. Encephalopathy is not characteristic of acute presentation.12 In subacute BCS, signs and symptoms will have been present for less than six months, while chronic BCS for greater than six months. Formation of collateral hepatic circulation and development of varices are signs that will only be seen in subacute and chronic forms of BCS.1 In chronic presentation, spider angiomata and palmar erythema may also be present. Keep in mind that the majority of cases will be subacute to chronic. However, it is especially important to pick up on fulminant presentations, as they can be fatal without prompt intervention.12

Epidemiology

Epidemiological information about BCS is limited. Several studies in Europe give estimates of 0.4-0.8 patients per million per year and found it affects women more than men from ages 30-49.9,14 In contrast, a study done in Japan indicated there was a slight male predominance and an incidence of 0.2 per million in 1989.10 More recently, a Chinese study published in 2015 also demonstrated a male predominance and showed an incidence of 0.88 per million from 1990-2013.11 The pediatric population is also affected by BCS, and epidemiologic data on this population is even more scarce than in adults, though it also demonstrates a male predominance.4

Etiologies

Cases of BCS have been described to be primary or secondary. Primary causes are usually due to hypercoagulable states, while secondary causes are caused by extravascular obstruction or different types of liver disease. Table 1 contains a breakdown of potential causes.

In general, it is important to note that hypercoagulable states have been associated with 75% of cases of BCS and should be considered when investigating a patient presenting with this syndrome.1, 3

Presentation

Presentation of patients with this syndrome will vary based on the acuity. Fulminant and acute afflictions of BCS will appear very similar to patients who are in acute liver failure. As noted in the introduction section, most cases of BCS are subacute or chronic. Be on the lookout for patients with abdominal pain, abdominal fullness, organomegaly, ascites, jaundice, and a history of hypercoagulable states in addition to changes in dietary habits, nausea, and vomiting, as these will be present in the most common BCS presentations.3

Diagnosis

Pattern recognition is paramount in quickly diagnosing this syndrome. A patient presenting with right upper quadrant tenderness, signs of portal hypertension (e.g. ascites, abdominal varices, esophageal varices, anal varices), and liver failure may be important clues to quick diagnosis. Although it is not the job of the emergency physician to determine the exact cause of the syndrome, knowing some of the more common causes can speed up diagnosis and disposition. Presence of any of the conditions mentioned in Table 1 can also be considered risk factors for development of BCS.

Work-Up

Imaging: Right upper quadrant ultrasound (RUQUS) is often the first imaging modality ordered, which offers a great deal of information about hepatic vasculature. It has been estimated to have a sensitivity and specificity of 85% for diagnosing Budd-Chiari syndrome. Findings seen on RUQUS that help to support the diagnosis of BCS are formation of hepatic collaterals, obstruction or stenosis of the hepatic veins, non-visualization of the hepatic veins, diminished or absent blood flow in hepatic veins, hypertrophy of the caudate lobe of the liver, and narrowing of the inferior vena cava. Computed tomographic scanning (CT) and magnetic resonance imaging (MRI) also options for imaging that may display similar findings.

CT scan is very useful for obtaining anatomical information about the liver and its venous blood supply network. Because of the liver’s unique vascularization, the CT scan should be ordered with IV contrast, especially in the case of chronic BCS. Patchy enhancement of liver tissue (nutmeg liver; Figure 2) and hyperattenuation of regenerated nodules in the arterial phase and in the portal phase may be present.15, 16

MRI has an estimated sensitivity and specificity of 90% and is effective for assessing hepatic venous flow and for visualization of the inferior vena cava.3,8  It is more expensive than CT, time-consuming, and may not be readily available at all facilities. These reasons make MRI less appealing than RUQUS and CT for assessment of BCS.

Hepatic venography is the gold standard for diagnosis, but this should only be ordered if RUQUS, CT, and MRI are negative and clinical suspicion is high. 1, 3 Expect to see “spider web” pattern (Figure 1), which indicates formation of collateral circulation between the distal portions of the hepatic veins and the liver capsule, for confirmation of BCS on venography.3

Labs/Procedures: Patients presenting with this constellation of symptoms should be investigated with laboratory tests that focus on liver function and coagulation. Proper work up should include comprehensive metabolic panel, ammonia, coagulation panel, and complete blood count with differential. Expect the patient to have non-specific increases liver enzymes, alkaline phosphate, and bilirubin. In fulminant and acute presentations, serum aspartate and alanine aminotransferase may be more than five times the upper limit of normal. 1, 3 Mild to moderate elevations of these enzymes will be seen in subacute and chronic cases of BCS.13 A hepatitis panel and drug levels for hepatotoxic agents can also be ordered to evaluate for conditions that may mimic BCS.

In cases where abdominal compartment syndrome or spontaneous bacterial peritonitis is suspected, a diagnostic/ therapeutic paracentesis can be performed. If this procedure is performed, be sure to include serum-ascites albumin gradient, cytology, culture, and gram stain of peritoneal fluid. More specific laboratory tests (e.g. factor V Leiden, protein C, protein S, anticardiolipin, antithrombin, etc) can be deferred to the specialist or the inpatient team.

Special Populations

Pediatrics: Budd-Chiari syndrome does not discriminate, as it may also present in the pediatric population. Similar to adults, a small study conducted at a hospital in the United Kingdom suggests that hypercoagulable states are present in 66% of children presenting with this syndrome. With rapid diagnosis, treatment, and coordinated specialist care the long-term outlook is favorable, however, any delay in diagnosis can leaded to high morbidity. 4

Pregnancy: Pregnancy and the post-partum state are known risk factors for developing Budd-Chiari syndrome and may complicate existing disease in women who desire to become pregnant. For expectant mothers, an observational study showed that maternal outcome is good after the diagnosis of the syndrome. Additionally, the study found that in patients who have established Budd-Chiari syndrome, pregnancy is not contraindicated if the disease process is stable. 5

Management

Goals of treatment may vary depending on patient presentation but should always include liver decompression to prevent further injury and reduction of ascites; in those who have an associated hypercoagulable state this should also be addressed.1 Aggressive management of fulminant presentations of Budd-Chiari syndrome may include urokinase or tissue plasminogen activator in addition to admission for surgical management.3 Patients who present acutely will likely need admission for surgical intervention (e.g. portosystemic shunt, transplant) or gastroenterology consult along with medical management. For those who present with subacute or chronic case of Budd-Chiari syndrome, they may be able to be discharged with the appropriate medical management, which includes diuretics and anticoagulants, fluid and salt restriction, and regular follow up.3, 6-8 In all cases, surgical and medical management should be tailored to the needs of the patient with the rapid achievement of the aforementioned goals in consideration. Since most cases are associated with hypercoagulable state, it is reasonable to anticoagulate patients initially as long as there are no contraindications and the patient has follow up for reassessment. The same is true of diuretics. Listed below are some of the pharmacologic options with suggested dosing for the treatment of BCS.

Urokinase 240,000U/hour for 2 hours3

Tissue plasminogen activator 0.5-1.0mg/hour for 24 hrs3, 8

Heparin titrate to INR 2-2.5 for use prior to warfarin3

Warfarin titrate to INR 2-2.53, 8

Spironolactone 100mg daily (can titrate every 3-5 days based on clinical fluid status; max dose 400mg) 6, 7

Furosemide 40mg daily (can titrate every 3-5 days based on clinical fluid status; max dose 160mg) 6, 7

Key Points

– Budd Chiari is a rare syndrome that is usually associated with a hypercoagulable state.

Paracentesis may support diagnosis and be therapeutic to the patient.

– Treatment of this syndrome can be managed medically but may require surgical intervention.

– Be wary of other serious conditions that may mimic this syndrome such as: constrictive pericarditis, tricuspid insufficiency, right atrial myxoma, congestive heart failure, hepatitis, and cholecystitis.3

 

References/Further Reading

  1. Raymond T. Chung MD, A. J. I. M. P., Philip C. Amrein MD, Dushyant V. Sahani MD, Joseph Misdraji MD (2006). “Case 15-2006: A 46-year-old Woman with Sudden Onset of Abdominal Distension.” New England Journal of Medicine 354(20): 2166-2175.
  2. Walter L Kemp MD, D. K. B. M., Travis G Brown MD (2008). Pathology: The Big Picture, McGraw-Hill Education.
  3. K. V. Narayanan Menon MD, V. S. M., Patric S Kamath MD (2004). “The Budd-Chiari Syndrome.” The New England Journal of Medicine 350(6): 578-585.
  4. Susana Nombre, R. K., Eirini Kyrana, Sue Height, John Karani, Pauline Kane, Nigel Heaton, Anil Dhawan (2017). “Primary Budd-Chiari Sundrom in Children: King’s College Hospital Experience.” Journal of Pediatric Gastroenterology & Nutrition 65(1): 93-96.
  5. Faisal Khan, I. R., Bill Martin, Ellen Knox, Tracey Johnston, Charlie Elliot, Will Lester, Frederick Chen, Simon Olliff, Homoyon Mehrzad, Zergham Zia, Dhiraj Tripathi (2017). “Outcomes of prenancy in patients with known Budd-Chiari Syndrome.” World Journal of Hepatology 9(21): 945-952.
  6. Justiniano Santos, R. P., Albert Pardo, Rosa Durandez, Eduard Cabre, Rosa Maria Morillas, Maria Luisa Granada, Jose Angel Jimenez, Enrique Quintero, Miquel Angel Gassull (2003). “Spironolactone alone or in combination with furosemide in treatment of moderate ascites in nonazotemic cirrhosis. A randomized comparative study of efficacy and safety.” Journal of Hepatology 39: 187-192.
  7. Runyon, B. A. (2012). “Management of Adult Patients with Ascites due to Cirrhosis.” The American Association for the Study of Liver Disease: 66-67.
  8. A.V. Kyriakidis, I. V., M. Pyrgioti (2008). “Budd-Chiari Syndrome.” Annals of Gastroenterology 21(4): 223-228.
  9. R Rajani, S. A. (2009). “Incidence and prevalence rates in Budd–Chiari syndrome.” Gut 58(6): 889.
  10. Valla, D.-C. (2008). “Budd–Chiari syndrome and veno-occlusive disease/sinusoidal obstruction syndrome.” Gut 57: 1469-1478.
  11. Wei Zhang, X., Xitong Zhang, Hongying Su, Hongshan Zhong, Jingpu Shi, and Ke Xu (2015). “Budd-Chiari Syndrome in China: A Systematic Analysis of Epidemiological Features Based on the Chinese Literature Survey.” Gastroenterology Research and Practice 2015: 1-8.
  12. Marvin H. Sleisenger, J. S. F. (1998). Gastrointestinal and Liver Disease: Pathophysiology/diagnosis/management, W.B Saunders Company.
  13. Lee Goldman MD, A. I. S. M. (2012). Goldman’s Cecil Medicine, Elsevier.
  14. Rupesh Rajani, T. M., Einar Bjonsson, Ulrika Broome, Per Sangfelt,Ake Danielsson, Anders Gustavsson, Olof Grip, Hans Svensson, Lars Loof, Sven Wallerstedt and Sven HC Almer (2009). “Budd-Chiari syndromeinSweden: epidemiology, clinical characteristics and survival-an 18-year experience.” Liver International 29(2): 253-259.
  15. Hector Ferral, G. B., Jorge Lopera (2012). “Budd-Chiari Syndrome.” American Journal of Roentgenology 199: 737-745.
  16. Giuseppe Brancatelli, V. V., Michael P. Federle, Antoine Hakime, Roberto Lagalla, Riccardo Iannaccone, Dominique Valla (2007). “Budd-Chiari Syndrome: Spectrum of Imaging Findings.” American Journal of Roentgenology 188(2): W168–W176.

 

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