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Disease Profile

Hepatic veno-occlusive disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hepatic veno-occlusive disease; Sinusoidal obstruction syndrome

Categories

Digestive Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 890

Definition
Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.

Epidemiology
Prevalence is unknown but hepatic VOD is a rare disease. Endemic zones have been identified in which the disease is associated with the consumption of herbal tea containing pyrrolizidine alkaloids. Epidemics affecting several hundred individuals may occur after contamination of the harvest with these plants.

Clinical description
It affects children and adults. The clinical picture is characterized by painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites. Hepatic insufficiency manifesting as coagulopathy and hepatic encephalopathy may occur. Functional renal insufficiency is common. In severe cases, multiple organ failure or severe bacterial infections may occur.In developed countries, hepatic veno-occlusive disease is mainly associated with the conditioning regimen for hematopoietic stem cell transplantation, with 10 to 60% of transplant patients (depending on the conditioning regimen protocol used) developing hepatic VOD. Hepatic VOD may also occur after chemotherapy or radiation therapy.

Etiology
Hepatic sinusoidal endothelial cell lesions appear to be the primary cause of the disease, leading to non-thrombotic occlusion of hepatic veins with concentric subendothelial thickening associated with edema and eventually fibrosis.

Diagnostic methods
Diagnosis is based on recognition of the clinical manifestations (hepatomegaly, jaundice, and weight gain) and their association with a potential cause of hepatic VOD (hematopoietic stem cell transplantation or chemotherapy, exposure to pyrrolizidine alkaloids), together with exclusion of other causes of liver disease. Liver biopsy is often indicated. Imaging studies, particularly hepatic Dopplerultrasonography, may help to confirm the diagnosis.

Differential diagnosis
Differential diagnoses include other causes of acute or chronic liver disease, and, in the case of hematopoietic stem cell transplantation, graft-versus-host disease and severe infections.

Management and treatment
No specific treatment is available. Defibrotide is frequently used, mainly on the basis of limited studies (historic comparisons) and because side effects are uncommon. Preventive treatment with heparin is often indicated, but its efficacy has not been proven. In case of hematopoietic stem cell transplantation, the main prophylactic treatment is the use of less hepatotoxic conditioning regimens.

Prognosis
Severity and course of the disease vary between patients. In severe cases, the prognosis is poor with a high mortality rate (up to 90%) due to multiple organ failure.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Ascites
Accumulation of fluid in the abdomen
0001541
Elevated hepatic transaminase
High liver enzymes
0002910
Hepatomegaly
Enlarged liver
0002240
Increased body weight
0004324
Increased total bilirubin
High bili total
0003573
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Respiratory failure
0002878
30%-79% of people have these symptoms
Prolonged partial thromboplastin time
0003645
1%-4% of people have these symptoms
Hepatic encephalopathy
0002480

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.