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Allogeneic bone marrow transplantation: cure for familial Mediterranean fever
John Milledge1, Peter J Shaw, Albert Mansour
1Oncology Department, Royal Alexandra Hospital for Children, Sydney, Australia.
Insights
Bone marrow transplant resolved familial Mediterranean fever (FMF) symptoms in a child with congenital dyserythropoietic anemia (CDA). This suggests FMF may be treatable by bone marrow transplantation, potentially via granulocyte replacement.
Area of Science:
- Hematology
- Immunology
- Genetics
Background:
- Congenital dyserythropoietic anemia (CDA) often requires transfusions, leading to iron overload.
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder characterized by recurrent fevers and inflammation.
- Managing co-occurring conditions like CDA and FMF presents significant clinical challenges, particularly regarding treatment toxicity and efficacy.
Observation:
- A 7-year-old girl with CDA and FMF experienced severe iron overload due to chronic transfusions.
- Her FMF symptoms, including splenomegaly, arthritis, and abdominal pain, complicated treatment.
- Allogeneic bone marrow transplantation (BMT) was performed at age 4 for CDA.
Findings:
- During BMT conditioning, FMF symptoms significantly improved, allowing for colchicine withdrawal.
- Two years post-BMT, the patient remains asymptomatic from FMF and is off immunosuppressants.
- The resolution of FMF suggests a potential link between the underlying pathology of FMF and bone marrow-derived cells.
Implications:
- Allogeneic BMT may offer a therapeutic strategy for severe FMF, particularly when co-occurring with other hematologic disorders.
- The success of BMT in resolving FMF symptoms points to a potential cellular or humoral factor deficiency in FMF.
- This case highlights the potential for BMT to treat complex genetic disorders by replacing or modulating cellular functions, possibly through granulocyte replacement therapy.
Abstract:
We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial Mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow.