Introduction: Diamond-Blackfan anemia (DBA) is a severe congenital erythroid aplastic anemia with autosomal dominant inheritance. It is a rare disease (incidence 1/150000) and usually is discovered during the 2 first years after birth. Treatment includes steroids, blood transfusions and bone-marrow transplantation.
Case report: A 31 year-old woman with DBA had received multiple treatments including transfusion support since birth. Consequently, she had developed heart hemochromatosis disease which caused severe biventricular failure. Osteoporosis with vertebral compression fractures was noted in her clinical personal history. During hospitalisation due to heart failure, primary hypothyroidism (TSH 25.2 mcU/ml and free T4 0.56 ng/dl) with negative thyroid autoimmunity was discovered. Low dose of levothyroxine was started. Due to the patients short stature and the presence of secondary amenorrhea for many years a pituitary hormonal study was performed showing FSH 0.8 mUI/ml; LH 0.2 mUI/ml; 17-beta-estradiol 16 pg/ml; PRL 26.4 ng/ml; GH 5.99 ng/ml; IGF-1 19 ng/ml [normal range (NR): 115307]; ACTH 32.7 pg/ml (NR: 9-55); and Cortisol 19.5 mcg/dl compatible with central hypogonadism and GH deficiency. Albumin-corrected hypocalcemia (7.5 mg/dl) was also discovered. Pituitary MRI showed a marked hypointensity of the adenohypophysis in both T1 and T2 images suggestive of iron deposits. At the eleventh day at the hospital patient died due to cardiorespiratory arrest. Hemochromatosis secondary to multiple blood transfusions in DBA can lead to multiple endocrinonopathies, as was seen in our patient who presented primary non-autoimmune hypothyroidism due to probable iron thyroid infiltration and partial hypopituitarism due to iron pituitary infiltration. In our case we could not rule out the coexistence of an associated hypoparathyroidism by iron deposits in the parathyroid glands.
Conclusion: The diagnosis of DBA, particularly in those patients undergoing multiple blood transfusions, implies the need to screen multiple endocrinopathies secondary to iron deposit disease in different endocrine glands.
18 - 21 May 2019
European Society of Endocrinology