Long-term evaluation results after hematopoietic stem cell transplantation for patients with fanconi anemia

Fanconi anemia is the most common inherited bone marrow failure syndrome. Various congenital abnormalities, endocrine disorders and malignancies can be seen in patients. The only known curative treatment of bone marrow failure in patients is hematopoietic stem cell transplantation. Hematopoietic stem cell transplantation has many side effects in the short and long term. Especially the long-term effects of transplantation decrease the quality of life of patients, and may cause various morbidities and even mortality. In our study, we aimed to reveal the problems that occur in the long-term follow-up of patients and to reveal follow-up methods to be used in these patients. In our study, 36 patients with Fanconi anemia (F/M: 12/24, mean age at diagnosis 9.9 ± 0.6 years) who were transplanted between 1995 and 2019 and at least one year after the transplant were included. The patients were transplanted from an HLA fully compatible sibling (72%) or a HLA compatible non-sibling relative (28%). There was no graft loss in any patients. The median follow-up period of the patients was 7.8 years (range 1-25.4 years). 5 patients developed acute graft-versushost disease and 3 patients developed chronic graft-versus-host disease. In the longterm outpatient clinic follow-ups, the patients were evaluated by the relevant departments and the findings were recorded. Short stature was detected in 58% of the patients at the last follow-up visits. 6% of the patients were obese and 21% were overweight. Insulin resistance was found in 23% of the evaluable patients, dyslipidemia in 39%, and hypothyroidism in 11%. Hypertension developed in one patient. Gonadal dysfunction was found in 35% of the patients. Moderate iron overload developed in the liver in 2 patients who received frequent transfusions of blood products before transplantation. At least one abnormality was found in 79% of the patients in pulmonary function tests. Hearing loss was detected in 8 of 9 patients. Three patients in total developed secondary malignancy in the long term after transplantation. Malignancies were squamous cell cancer of the oral cavity, esophageal squamous cell cancer and basal cell cancer.