Table 3.

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

System/ConcernEvaluationComment
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-γ) 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 hVODEvidence 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
  • In sick infants w/feeding intolerance, consider early supplementation w/parenteral nutrition.
Genetic counseling By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of VODI to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

CNS = central nervous system; hVOD = hepatic veno-occlusive disease; IFN = interferon; Ig = immunoglobulin; IL = interleukin; MOI = mode of inheritance; VODI = hepatic veno-occlusive disease with immunodeficiency

1.

Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)

From: Hepatic Veno-Occlusive Disease with Immunodeficiency

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