Living with Hepatic veno-occlusive disease-immunodeficiency syndrome
An inherited condition of the liver and immune system that starts in infancy with repeated infections.
Understanding Hepatic veno-occlusive disease-immunodeficiency syndrome
Signs usually appear before 6 months of age. Small veins in the liver are blocked, which can lead to an enlarged liver and scarring. The immune system does not work normally, so children get repeated infections such as colds and pneumonia. Some have nervous system problems from blocked blood flow in the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated respiratory infections
- Repeated viral infections
- Enlarged liver
- Enlarged liver and spleen
- Slow weight gain (failure to thrive)
- Low T cell count
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SP110 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SP110 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hepatic veno-occlusive disease with immunodeficiency; vodi syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hepatic veno-occlusive disease-immunodeficiency syndrome.
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