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Hepatic veno-occlusive disease with immunodeficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Hepatic veno-occlusive disease with immunodeficiency

Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare, life-threatening disorder that affects both the liver and the immune system, typically appearing before six months of age.

Overview

Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow. This can lead to an enlarged liver (hepatomegaly), the buildup of scar tissue (hepatic fibrosis), and eventually liver failure. Children with VODI also have immune systems that do not function normally, leaving them vulnerable to recurrent, serious infections caused by bacteria, viruses, and fungi.

Symptoms

Symptoms of VODI often appear in infancy and may include:

  • Frequent colds or bouts of pneumonia.
  • Serious, potentially life-threatening infections.
  • Enlarged liver (hepatomegaly).
  • Neurological problems resulting from blocked blood flow in the brain.

In most cases, the immune system issues become evident before the liver disease manifests. Infections in these patients are linked to lower-than-normal levels of immune system cells and proteins, specifically immunoglobulin M, immunoglobulin G, and immunoglobulin A.

Causes

VODI is caused by variants (mutations) in the SP110 gene. This gene provides instructions for making the SP110 nuclear body protein, which is essential for:

  • Cell division.
  • The self-destruction of damaged or unnecessary cells (apoptosis).
  • Regulating genes involved in the immune response to foreign invaders.

Variants in the SP110 gene prevent the production of sufficient functional protein, leading to immunodeficiency. It remains unclear whether the liver disease is a direct result of this protein deficiency or a secondary effect of recurrent infections or unregulated apoptosis.

Inheritance

This condition is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell must have a variant to cause the disorder. Parents of an affected individual typically carry one copy of the altered gene but do not show signs or symptoms of the condition.

Frequently Asked Questions

Diagnosis requires a two‑step approach: (1) immunologic work‑up showing low IgM, IgG, IgA and reduced lymphocyte subsets, and (2) liver evaluation with Doppler ultrasound or MRI demonstrating occlusion of hepatic venules, fibrosis, or ascites. Definitive confirmation is obtained by molecular genetic testing that identifies biallelic pathogenic variants in the SP110 gene.
Management is multidisciplinary: supportive liver care includes diuretics, nutritional support, and, in advanced cases, liver transplantation; immunodeficiency is addressed with regular intravenous immunoglobulin (IVIG), prophylactic antibiotics, and antifungals. HSCT has been reported to correct the immune defect and may halt progression of liver disease, but success depends on disease stage and donor availability, so early referral to a transplant center is essential.
Look for a combination of severe, recurrent bacterial or viral infections beginning in the first months of life together with unexplained hepatomegaly, rising liver enzymes, or signs of portal hypertension such as splenomegaly. The presence of neurological symptoms (e.g., seizures or developmental delay) in the same age window further raises suspicion for VODI.
Parents who are carriers have a 25 % recurrence risk for each pregnancy; carrier testing and prenatal or pre‑implantation genetic diagnosis are options for future pregnancies. Affected children need lifelong monitoring of liver function (every 3–6 months), regular immunologic assessments, vaccination updates (avoiding live vaccines when immunodeficient), and neurodevelopmental evaluations to intervene early on any delays.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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