Late Effects Following Hematopoietic Stem Cell Transplantation Among Childhood Transplant Survivors with Fanconi Anemia

Abstract

Objective: This study was planned to evaluate long-term post-transplant complications in patients who underwent transplantation with the diagnosis of Fanconi anemia (FA) in childhood in our bone marrow transplantation unit and who were still being followed. It was predicted that the results would show the critical importance of determining disease-specific post-transplant long-term follow-up plans and putting them into practice in terms of early detection of complications and improving the survival rates and quality of life of FA patients.

Materials and methods: In this single-center, cross-sectional study, according to current recommendations, we analyzed the long-term outcomes of 36 patients with FA with a median age of 18.1 years (range: 6.1-36 years, male/female ratio: 24/12) who underwent HSCT in the Pediatric Bone Marrow Transplantation Unit between 1995 and 2019 and survived at least 1 year following the transplantation.

Results: The median long-term follow-up time was 8 years (range: 1-25 years). Gonadal dysfunction was detected in approximately 35% of our patients; more specifically, 31% of the patients had hypergonadotropic hypogonadism and 4% had hypogonadotropic hypogonadism. When the patients were evaluated for growth impairment, 7 of 12 patients who had reached their final adult heights and 12 of 21 patients who had not yet completed their growth had height standard deviation (SD) scores below -2 SDs. Three patients (9%) developed subclinical hypothyroidism, 2 (6%) had overt hypothyroidism, and 1 (3%) had central hypothyroidism. Although none of our patients fully met the criteria for metabolic syndrome, 23% had insulin resistance and 39% had dyslipidemia. Evaluation of organ dysfunctions revealed that nearly 50% of the patients had obstructive and 21% had restrictive changes in their pulmonary function tests. Hepatosteatosis was detected in 15% of the patients and mild valve dysfunction was detected in 50% of evaluable patients. Three patients developed secondary malignancies. Squamous cell cancer developed in 2 patients and basal cell cancer in 1 patient.

Conclusion: A risk-defined multidisciplinary approach for the long-term follow-up of children with FA undergoing HSCT is essential for early detection and management of late effects.