Endocrinopathies, bone health, and insulin resistance in patients with Fanconi anemia after hematopoietic cell transplantation

• Published in: Biology of blood and marrow transplantation Vol. 22; no. 8; pp. 1487 - 1492
• Main Authors: Barnum, Jessie L, Petryk, Anna, Zhang, Lei, DeFor, Todd E, Baker, K. Scott, Steinberger, Julia, Nathan, Brandon, Wagner, John E, MacMillan, Margaret L
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2016
• Subjects: Adolescent; Adult; Body Weights and Measures; Bone Density; Bone mineral density; Case-Control Studies; Child; Child, Preschool; Endocrine; Endocrine System Diseases - etiology; Fanconi anemia; Fanconi Anemia - complications; Fanconi Anemia - therapy; Female; Hematologic Neoplasms - therapy; Hematology, Oncology and Palliative Medicine; Hematopoietic cell transplantation; Hematopoietic Stem Cell Transplantation - adverse effects; Hematopoietic Stem Cell Transplantation - methods; Humans; Hypothyroidism; Hypothyroidism - etiology; Insulin Resistance; Male; Young Adult; bone mineral density; Fanconi anemia; hematopoietic cell transplantation; hypothyroidism; insulin resistance; endocrine; Endocrine; Insulin resistance; Hematopoietic cell transplantation; Bone mineral density; Hypothyroidism
• ISSN: 1083-8791; 1523-6536
• DOI: 10.1016/j.bbmt.2016.05.004

Abstract A number of endocrinopathies have been described after hematopoietic cell transplantation (HCT), but data are limited in patients with Fanconi anemia (FA). We report several endocrine-based disorders in a cohort of 44 patients with FA after HCT, compared to 74 patients who received HCT for hematologic malignancies and 275 healthy controls. Endocrinopathies assessed included hypothyroidism, hypogonadism, short stature, dyslipidemia, insulin resistance, abnormalities in body composition and bone health. Most (86%) patients with FA had at least one endocrinopathy with 11% having 3 or more. Hypothyroidism was seen in 57%, hypogonadism in 27%, short stature in 50%, reduced total body and lumbar spine BMD (height adjusted Z-score < -1) in 57% and 21%, respectively. Vitamin D deficiency was seen in 71%. Short stature was associated with younger age at HCT and gonadal failure with older age at HCT. Insulin resistance was associated with increased percent fat mass and increased android/gynoid ratio by dual energy X-ray absorptiometry (DXA). Hypothyroidism, short stature, and reduced total body BMD were more prevalent in patients with FA compared to patients with hematologic malignancies. We recommend an assessment prior to transplant and close follow up afterwards to ensure proper clinical management. Future studies should continue to explore the impact of HCT on endocrinopathies in FA patients.