Differential Diagnosis

Hepatic veno-occlusive disease (hVOD). The primary differential diagnosis for hVOD alone is environmental alkaloid or sinusoidal cell toxicity. Hepatic veno-occlusive disease has also been reported in association with alcoholic cirrhosis , ataxia-telangiectasia , osteopetrosis (see CLCN7-Related Osteopetrosis), and hypereosinophilic syndrome (OMIM 607685). Immunodeficiency. Other combined immunodeficiency disorders and HIV should be considered in the differential diagnosis for the immune phenotype. To date, there has been no report of SP110 pathogenic variants in individuals described to have hVOD without immunodeficiency.

Source: GeneReviews — "Hepatic Veno-Occlusive Disease with Immunodeficiency"

Management Guidelines

No clinical practice guidelines for hepatic veno-occlusive disease with immunodeficiency (VODI) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with VODI, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Hepatic Veno-Occlusive Disease with Immunodeficiency: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Immune function

| • Eval by immunologist

• Serum Ig levels

• T B cell numbers percentages

• T cell proliferative response to mitogens

| More extensive immune testing for number of memory B T cells intracellular cytokine (IL-2, IL-4, IL-6, IFN-) responses to stimulation SP110 expression (flow cytometry), if available

Liver function

| • Serum aminotransferases, bilirubin, albumin

• Complete blood count to assess anemia thrombocytopenia

|

Clotting profile hepatic Doppler ultrasound exam prior to liver biopsy for hVOD | Evidence of impaired clotting /or significant portal hypertension contraindicates hepatic biopsy.

Neurologic

| Consider baseline CNS imaging. | Head ultrasound if anterior fontanelle is open

Growth/Nutrition

| • Early involvement of dietary support to optimize nutritional intake

Source: GeneReviews — "Hepatic Veno-Occlusive Disease with Immunodeficiency"

Clinical Guidance

Agents known to predispose to hepatic veno-occlusive disease (e.g., cyclophosphamide and Senecio alkaloids/ bush teas) should be avoided.

Source: GeneReviews — "Hepatic Veno-Occlusive Disease with Immunodeficiency"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Hepatic Veno-Occlusive Disease with Immunodeficiency"