Budd–Chiari syndrome

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Not to be confused with Chiari malformation.
Budd–Chiari syndrome
Anticoagulant medication, Transjugular intrahepatic portosystemic shunt, Liver transplantation
Named after

Budd–Chiari syndrome is a very rare condition, affecting one in a million adults.[1][2] The condition is caused by occlusion of the hepatic veins (usually due to a blood clot) that drain the liver. The symptoms are non-specific and vary widely, but it may present with the classical triad of abdominal pain, ascites, and liver enlargement. It is usually seen in younger adults, with the median age at diagnosis between the ages of 35 and 40, and it has a similar incidence in males and females.[2] The syndrome can be fulminant, acute, chronic, or asymptomatic. Subacute presentation is the most common form.

Signs and symptoms

The acute syndrome presents with rapidly progressive severe upper

Caudate lobe enlargement 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.[3]

Causes

The cause of Budd–Chiari syndrome can be found in more than 80% of patients.[12] However, in 20% of cases, there is no underlying cause discovered. These cases are known as idiopathic Budd–Chiari syndrome.[2] In about 75% of cases, there is an underlying hypercoagulability disorder, with a third of these people having two or more hypercoagulable disorders.[2]

Primary Budd–Chiari syndrome occurs due to thrombosis of the hepatic vein. The most common cause is due to acquired hypercoagulability associated with

factor II mutation (3%), protein C deficiency (5%), protein S deficiency (4%), and antithrombin III deficiency(1%).[2][14]
Budd–Chiari syndrome may be the presenting sign of these hypercoagulable disorders.

Secondary Budd–Chiari syndrome, which is very rare compared to the primary variant, is due to compression of the hepatic vein by an outside structure (such as a

tumor or polycystic kidney disease).[15]

Budd–Chiari syndrome is also seen in tuberculosis, congenital venous webs and occasionally in inferior vena caval stenosis.

An important non-genetic risk factor is the use of estrogen-containing forms of

myeloma.[2] Medications such as dacarbazine, pregnancy, trauma or recent abdominal surgery are other causes.[16]

People who have 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,[17] and 12% may acquire Budd–Chiari.[18]

Pathophysiology

Posterior abdominal wall, after removal of the peritoneum, showing kidneys, suprarenal capsules, and great vessels. (Hepatic veins labeled at center top.)

Any obstruction of the

nutmeg liver will develop. 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.[15]

Diagnosis

Budd Chiari syndrome may present with elevated liver enzymes;

INR, decreased albumin level, and an elevated bilirubin level.[2]

Budd–Chiari syndrome is most commonly diagnosed using

JAK2 V617F mutation is recommended.[citation needed
]

Treatment

Identifying and treating the secondary cause of the hypercoagulability, or the primary hypercoagulable disorder leading to the Budd–Chiari syndrome is essential.

diuretics can be used in cases of fluid overload in people with ascites.[2] Anti-coagulation is required for all patient's with Budd–Chiari syndrome, even if a cause of hypercoagulability is not found.[2] Warfarin is the preferred, and best studied anticoagulant, but direct factor Xa inhibitors may also be used.[2]

Many patients will require further intervention. Some forms of Budd–Chiari may be treated with surgical shunts (such as portacaval shunt) to divert blood flow around the obstruction or the liver itself. Shunts must be placed early after diagnosis for best results.[19] TIPS (transjugular intrahepatic portosystemic shunt) has replaced shunt surgery as it is less invasive and overcomes intrahepatic outflow obstruction by diverting hepatic and portal blood flow to the inferior vena cava. TIPS accomplishes the same goal as a surgical shunt but has a lower procedure-related mortality, a factor that has led to a growth in its popularity. It is very effective in treating ascites and preventing further variceal bleeding.[20] The TIPS procedure has shown to have good outcomes, with a 78% five-year transplant-free survival rate.[2] If all the hepatic veins are blocked, the portal vein can be approached via the intrahepatic part of inferior vena cava, a procedure called DIPS (direct intrahepatic portocaval shunt).

Segmental occlusions of the

tissue plasminogen activator into the obstructed vein have shown moderate success in treating Budd–Chiari syndrome; however, it is not routinely attempted.[citation needed
]

fulminant liver failure, failure of shunts, or progression of cirrhosis that reduces the life expectancy to one year.[22] Survival rates in Budd–Chiari syndrome after liver transplantation are 76%, 71% and 68% after 1, 5 and 10 years respectively.[2] It is recommended to continue anticoagulant treatment after liver transplantation, especially if the secondary or primary cause of hypercoagulability is still present, and to monitor for blood clots after liver transplantation.[2]

Pregnancy is not contraindicated in those with Budd Chiari syndrome and if it occurs, anticoagulants should be continued with

teratogenic (associated with birth defects).[2] Budd Chiari syndrome in pregnancy is associated with an increased risk of miscarriage and prematurity.[2] Screening for esophageal varices is recommended in the second trimester, especially in those not on beta blocker prophylaxis. Screening for portopulmonary hypertension is also recommended for all pregnant patients with Budd Chiari syndrome.[2]

Prognosis

Several studies have attempted to predict the survival of patients with Budd–Chiari syndrome. In general, nearly two-thirds of patients with Budd–Chiari are alive at 10 years.

myeloproliferative disorder may progress to acute leukemia, independently of Budd–Chiari syndrome.[23]

Eponym

It is named after George Budd,[24][25] a British physician, and Hans Chiari,[26] an Austrian pathologist.

References

  1. S2CID 36353033. Archived from the original
    on 2013-01-05.
  2. ^
    S2CID 257984588
    .
  3. ^ "Ascites". Johns Hopkins Medicine. Retrieved 1 July 2021.
  4. ^ "Etiology, management, and outcome of the Budd–Chiari syndrome". {{cite journal}}: Cite journal requires |journal= (help)
  5. ^ "Hepatic vein thrombosis (Budd–Chiari syndrome)". {{cite journal}}: Cite journal requires |journal= (help)
  6. ^ "The Budd–Chiari syndrome: a review". {{cite journal}}: Cite journal requires |journal= (help)
  7. ^ "Budd–Chiari syndrome: long-term survival and factors affecting mortality". {{cite journal}}: Cite journal requires |journal= (help)
  8. ^ "Budd–Chiari Syndrome: clinical patterns and therapy". {{cite journal}}: Cite journal requires |journal= (help)
  9. ^ "Budd–Chiari syndrome: etiology, diagnosis and management". {{cite journal}}: Cite journal requires |journal= (help)
  10. ^ "Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 51-1987. Progressive abdominal distention in a 51-year-old woman with polycythemia vera". {{cite journal}}: Cite journal requires |journal= (help)
  11. ^ "Hepatic outflow obstruction (Budd–Chiari syndrome). Experience with 177 patients and a review of the literature". {{cite journal}}: Cite journal requires |journal= (help)
  12. ^ [4][5][6][7][8][9][10][11]
  13. PMID 16762626
    .
  14. ^ Podnos YD, Cooke J, Ginther G, Ping J, Chapman D, Newman RS, Imagawa DK (Aug 2003). "Prothrombin Mutation G20210A as a Cause of Budd–Chiari Syndrome" (PDF). Hospital Physician. 39 (8): 41–4. Archived from the original (PDF) on 2012-02-18. Retrieved 2008-10-17.
  15. ^
    PMID 17569137
    .
  16. ^ "Budd-Chiari Syndrome". The Lecturio Medical Concept Library. Retrieved 5 July 2021.
  17. PMID 7566002
    .
  18. S2CID 23456850
    .
  19. ^
    S2CID 20101090
    .
  20. S2CID 8806851
    .
  21. PMID 10075967
    .
  22. PMID 10973384
    .
  23. ^ "Ascites". The Lecturio Medical Concept Library. Retrieved 1 July 2021.
  24. Who Named It?
  25. ^ Budd G (1845). On diseases of the liver. London: John Churchill. p. 135. Brit Lib. 000518193.
  26. ^ Chiari H (1898). "Erfahrungen über Infarktbildungen in der Leber des Menschen". Zeitschrift für Heilkunde, Prague. 19: 475–512.

External links

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