Allogeneic Hematopoietic Stem Cell Transplantation for Adult Patients With Fanconi Anemia.

Abstract

Background and objectivesFanconi anemia (FA) is a rare genetic disorder caused by an impaired DNA repair mechanism which leads to an increased tendency toward malignancies and progressive bone marrow failure. The only curative management available for hematologic abnormalities in FA patients is hematopoietic stem cell transplantation (HSCT). This study aimed to report the results of HSCT in adult or adolescent FA patients.Patients and MethodsTwenty FA patients with ages of 16 or more who underwent HSCT between 2002 and 2015 enrolled in this study. The stem cell source was peripheral blood, and all patients had a full human leukocyte antigen (HLA) matched donor, 19 patients had a sibling donor, and one had full matched other related. Indications for HSCT were severe bone marrow failure or dependence on blood products transfusion and failure of medical treatment to sustain peripheral blood elements at an acceptable level.ResultsEleven patients were female and 9 male (55% and 45%). Mean age was 24.05 years. Mortality rate was 50% (n=10), and the leading cause of death was graft versus host disease (GVHD) which occurred in 5 patients (4 cases from acute GVHD and one from chronic GVHD). Survival analysis showed an overall 5-year survival of 53.63% (95% confidence interval: 29.53%–72.74%) and 13 year survival of 45.96 % (95% confidence interval: 22.08%–67.03%) among patients.ConclusionHSCT is the only curative management for bone marrow failure in FA patients. But the high rate of mortality and morbidity in adolescent and adult patients makes it a challenging issue.

Body composition of Fanconi anemia patients after hematopoietic stem cell transplantation

“…In contrast, these patients are also at risk for excessive weight including obesity, in most cases, probably due to metabolic alterations, especially abnormalities in the glucose and insulin metabolism as was observed in studies performed with humans and animals. 3 , 18 Excessive weight was found in at least 10% of the members of all groups analyzed in this study, with obesity only found in children and adolescents. Rose et al identified similar results on assessing an adult population, in which 11% were overweight.…”

“…Furthermore, an analysis of the ROC curve, even considering only the potentially healthier patients since they were evaluated more than six months after the transplant, showed that more than one and a half years would be necessary to reach normal weight parameters according to their BMI. Studies indicate that from 22% to 38% of FA patients are underweight 3 , 16 ; this may occur due to anatomical alterations of the gastrointestinal tract, chronic inflammation, infection, or as consequences of pharmacological treatment, resulting in early satiety, reflux, nausea, emesis, and diarrhea. 17 This study found similar results: 20% of non-transplanted children and adolescents had decreased BMI.…”

“…The only hematology treatment that offers a potential cure for this disorder is hematopoietic stem cell transplantation (HSCT), which aims to restore the impaired bone marrow. 1 , 2 , 3 …”

“… 4 Moreover, immunosuppression and the toxicity of the conditioning regimen have negative effects, in particular in respect to infections, bleeding, constipation, diarrhea, mucositis, nausea, and emesis. 3 …”