ESPE Abstracts

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.

Observation: A patient has been followed since the age of 7 for FA complicated by aplastic anemia. She had an allogeneic bone marrow transplant when she was 8 years old. During her follow-up, the diagnosis of GH deficiency (GHD) was made at the age of 10 years and the patient had treatment with growth hormone for 2 years. She had had chronic kidney failure since the age of 13. She had menarche at the age of 13 with regular periods. Currently she is 20 years old. On physical examination, his final height was 1.36 m with a BMI of 24.4 kg/m². In biology, the synachten test was normal. TSH was 16.4 µIU/l and FT4 was 6 ng/l (VN: 9-19) controlled at 0.05 µIU/l and 9.3 ng/l respectively. Anti-peroxidase antibodies are negative. She had prediabetes with hypertriglyceridemia and hypercholesterolemia. The pituitary MRI is without abnormality. She was put on L-thyroxine and dietetic rules.

Discussion: The GHD in our patient would most likely be secondary to total body irradiation (TBI) during the HSCT preparation protocol. The final height was very delayed which could be further explained by the FA. Some mutations are more at risk of small stature. Interpretation of the thyroid workup was difficult in our patient because hypothyroidism could be either secondary to autoimmune thyroiditis post HSCT or secondary to thyrotropic insufficiency due to TBI. Interpreting the metabolic balance is tricky. Dyslipidemia could be of multifactorial origin: Chronic renal failure, FA or secondary to HSCT. Indeed, even after the interruption of immunosuppression, allogeneic HSC transplant patients seem to have an increased risk of diabetes and metabolic syndrome.

Conclusion: At present, allogeneic HSCT remains the only treatment to most patients with FA. All patients who have received an allogeneic HSCT are likely to develop late complications. A multidisciplinary team caring for these patients should include a pediatric or adult endocrinologist and work closely with other FA specialists to ensure appropriate and optimal patient care.