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Hepatic veno-occlusive disease with immunodeficiency

(also known as VODI)
Reviewed January 2009

What is VODI?

Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.

Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.

Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.

How common is VODI?

VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy.

What genes are related to VODI?

VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).

Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.

How do people inherit VODI?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for VODI?

You may find information on treatment or management of VODI or some of its symptoms in the links below, particularly the links for Gene Reviews, Educational resources, and Patient support.

Where can I find additional information about VODI?

You may find the following resources about VODI helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Health Topic: Immune System and Disorders (http://www.nlm.nih.gov/medlineplus/immunesystemanddisorders.html)
    • Health Topic: Liver Diseases (http://www.nlm.nih.gov/medlineplus/liverdiseases.html)
  • Educational resources - Information pages
    • Eunice Kennedy Shriver National Institute of Child Health and Human Development: Primary Immunodeficiency (http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm)
    • Merck Manual Home Edition for Patients and Caregivers: Veno-Occlusive Disease of the Liver (http://www.merck.com/mmhe/sec10/ch138/ch138e.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79124)
  • Patient support - For patients and families
    • American Liver Foundation (http://www.liverfoundation.org/)
    • Children's Liver Disease Foundation (UK) (http://www.childliverdisease.org/)
    • Family Village: Liver Disease (http://www.familyvillage.wisc.edu/lib_liver.htm)
    • Immune Deficiency Foundation (http://www.primaryimmune.org/)
    • International Patient Organisation for Primary Immunodeficiencies (http://www.ipopi.org/)
    • National Primary Immunodeficiency Resource Center (http://npi.jmfworld.org/)
    • Primary Immunodeficiency Association (UK) (http://www.pia.org.uk/)
    • Resource list from the University of Kansas Medical Center: Immune Deficiency Conditions (http://www.kumc.edu/gec/support/immune.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vodi)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=272071)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((hepatic+veno-occlusive+disease[TIAB])+AND+(immunodeficiency[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235550)

What other names do people use for VODI?

  • familial veno-occlusive disease with immunodeficiency
  • hepatic venoocclusive disease with immunodeficiency
  • veno-occlusive disease and immunodeficiency syndrome

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about VODI?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding VODI?

autosomal ; autosomal recessive ; bacteria ; candidiasis ; cell ; familial ; fibrosis ; fungus ; gene ; hepatic ; immune response ; immune system ; immunodeficiency ; infection ; liver failure ; mutation ; occlusion ; protein ; recessive ; sign ; symptom ; syndrome ; tissue ; vascular ; vein ; venoocclusive disease ; veno-occlusive disease ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF, Roscioli T. The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. Prenat Diagn. 2007 Jul;27(7):674-6. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17510920)
  • Gene Review: Hepatic Veno-occlusive Disease with Immunodeficiency (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vodi)
  • Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006 Jun;38(6):620-2. Epub 2006 Apr 30. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16648851)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2009
Published: January 23, 2009