Allogeneic Bone Marrow Transplantation for Familial Erythrophagocytic Lymphohistiocytosis, with High Dose...

Area of Science:

• Pediatric Hematology
• Immunology
• Transplantation Medicine

Background:

• Familial erythrophagocytic lymphohistiocytosis (FEL) is a rare, life-threatening genetic disorder characterized by excessive immune activation.
• FEL often requires intensive treatment, including hematopoietic stem cell transplantation, to achieve long-term survival.

Purpose of the Study:

• To report a case of successful allogeneic bone marrow transplantation (BMT) in an infant with familial erythrophagocytic lymphohistiocytosis (FEL).
• To describe the conditioning regimen, engraftment, graft-versus-host disease (GVHD) management, and immunological recovery post-BMT.

Main Methods:

• A 6-month-old boy diagnosed with FEL received BMT from an HLA-identical sibling.
• Pre-transplant remission was induced with Etoposide (VP16) and prednisone.
• Conditioning regimen included high-dose busulfan, cyclophosphamide, Etoposide (VP16), and intrathecal methotrexate.

Main Results:

• The conditioning regimen was well tolerated.
• Successful engraftment was achieved.
• Grade II GVHD was effectively managed with prednisone.
• Impaired natural killer (NK) cell activity improved post-BMT.
• The patient achieved complete remission and remained disease-free for over 10 months.

Conclusions:

• Allogeneic BMT is a viable and effective treatment for familial erythrophagocytic lymphohistiocytosis in infants.
• A comprehensive conditioning regimen and GVHD prophylaxis can lead to successful outcomes.
• Restoration of immune function, including NK cell activity, is crucial for long-term remission.