Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI): A Case Report and Review of Literature

Abstract

Hepatic veno occlusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absence of tissue plasma cells. VODI was first described in 1976 in an Australian Lebanese population. In our patient who came to the emergency department with septic shock, all immunoglobulins were too low to count. In the blood analysis of the patient, it was observed that there was no antibody response. Lymphocyte subgroups were almost normal. According to the whole exome sequence (WES) analysis, it was observed that he had a VODI gene defect. There was an increase in intermittent liver function tests and ursodeoxycholic-acid (UDCA) was started. However, hepatic fibrosis has not yet been detected by radiological methods. During the follow-up of our patient, there was serious weight loss due to chronic (prolonged) norovirus infection. The patient is preparing for a bone marrow transplant. The VODI gene defect should be considered in the differential diagnosis in patients with sepsis, invasive infection, and hypogammaglobulinemia, especially in the early stages of life. With early detection of the disease, patients are monitored regularly with intravenous immunoglobulin (IVIG) prophylactic treatments. In this way, patients can be caught before hepatic fibrosis develops and the development of irreversible damage can be prevented, such as failure of the liver.