Fluorescence in situ hybridization-based confirmation of acute graft-vs-host disease diagnosis following liver transplantation: A case report

Abstract

BACKGROUND

Although acute graft-vs-host disease (aGvHD) is a rare complication of liver transplantation, it is poorly understood and has an extremely high mortality rate. No standardized diagnostic criteria or treatment regimens currently exist.

CASE SUMMARY

The present study investigated the etiology, diagnosis, and treatment of aGvHD following liver transplantation. Presentation, diagnosis, disease course, histology, and treatment of an aGvHD case are reported, and associated literature is reviewed. A 64-year-old female required LTx due to primary biliary cirrhosis. The donor was a 12-year-old male. Three weeks following liver transplantation, the recipient developed pyrexia, diarrhea, rashes, and antibiotic-unresponsive pancytopenia. Clinical symptoms together with laboratory investigations suggested a diagnosis of aGvHD, which was confirmed via peripheral blood fluorescent in situ hybridization. Donor XY chromosome fluorescent in situ hybridization indicating early chimerism achieved 93% sensitivity in the detection of GvHD. Existing immunosuppressants were discontinued, and high-dose intravenous methylprednisolone was initiated along with antibiotics. While diarrhea resolved, the patient’s general condition continued to deteriorate until demise due to multi-system organ failure at 37 d post-liver transplantation. This case illustrates the life-threatening nature of aGvHD.

CONCLUSION

Herein, we have summarized a post-LTx aGvHD case and reviewed associated literature in order to increase awareness and provide potentially risk-mitigating recommendations.

Keywords: Liver transplantation; Graft-vs-host disease; Fluorescence in situ hybridization cytogenetics; Chimerism; Diagnosis; Case report

Core Tip: At present, the risk factors, pathogenesis, optimal treatment, and prognosis associated with acute graft-vs-host disease following liver transplantation are unclear. Currently, the most reliable diagnostic method is specific immunostaining for donor-specific antigens. If the donor is male and the recipient is female, fluorescent in situ hybridization-based detection of the Y chromosome is a diagnostic option. In the present case, acute graft-vs-host disease was confirmed via fluorescent in situ hybridization, demonstrating the presence of male donor DNA.