Amit Lahoti1,2, Yael T Harris2,3, Phyllis W Speiser1,2,4, Evangelia Atsidaftos4, Jeffrey M Lipton2,4,5, Adrianna Vlachos2,4,5. 1. Division of Endocrinology, Cohen Children's Medical Center (CCMC), New Hyde Park, New York. 2. Hofstra North Shore-LIJ School of Medicine, Hempstead, New York. 3. Internal Medicine-Endocrinology, North Shore LIJ Health System (NSLIJHS), Manhasset, New York. 4. Feinstein Institute for Medical Research (FIMR), Manhasset, New York. 5. Division of Hematology/Oncology and Stem Cell Transplantation, CCMC, New Hyde Park, New York.
Abstract
BACKGROUND: Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied patients in the DBA Registry (DBAR) of North America to assess the prevalence of various endocrinopathies. PROCEDURE: In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1-39 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid-dependent, and seven in remission. Data were collected on anthropometric measurements, systematic screening of pituitary, thyroid, parathyroid, adrenal, pancreatic, and gonadal function, and ferritin levels. Descriptive statistics were tabulated and group differences were assessed. RESULTS: Fifty-three percent of patients had ≥ 1 endocrine disorder, including adrenal insufficiency (32%), hypogonadism (29%), hypothyroidism (14%), growth hormone dysfunction (7%), diabetes mellitus (2%), and/or diabetes insipidus (2%). Ten of the 33 patients with available heights had height standard deviation less than -2. Low 25-hydroxy vitamin D (25(OH)D) levels were present in 50%. A small proportion also had osteopenia, osteoporosis, or hypercalciuria. Most with adrenal insufficiency were glucocorticoid dependent; other endocrinopathies were more common in chronically transfused patients. CONCLUSIONS: Endocrine dysfunction is common in DBA, as early as the teenage years. Although prevalence is highest in transfused patients, patients taking glucocorticoids or in remission also have endocrine dysfunction. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.
BACKGROUND: Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied patients in the DBA Registry (DBAR) of North America to assess the prevalence of various endocrinopathies. PROCEDURE: In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1-39 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid-dependent, and seven in remission. Data were collected on anthropometric measurements, systematic screening of pituitary, thyroid, parathyroid, adrenal, pancreatic, and gonadal function, and ferritin levels. Descriptive statistics were tabulated and group differences were assessed. RESULTS: Fifty-three percent of patients had ≥ 1 endocrine disorder, including adrenal insufficiency (32%), hypogonadism (29%), hypothyroidism (14%), growth hormone dysfunction (7%), diabetes mellitus (2%), and/or diabetes insipidus (2%). Ten of the 33 patients with available heights had height standard deviation less than -2. Low 25-hydroxy vitamin D (25(OH)D) levels were present in 50%. A small proportion also had osteopenia, osteoporosis, or hypercalciuria. Most with adrenal insufficiency were glucocorticoid dependent; other endocrinopathies were more common in chronically transfused patients. CONCLUSIONS:Endocrine dysfunction is common in DBA, as early as the teenage years. Although prevalence is highest in transfused patients, patients taking glucocorticoids or in remission also have endocrine dysfunction. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.
Authors: T N Willig; C M Niemeyer; T Leblanc; C Tiemann; A Robert; J Budde; A Lambiliotte; E Kohne; G Souillet; S Eber; J L Stephan; R Girot; P Bordigoni; G Cornu; S Blanche; J M Guillard; N Mohandas; G Tchernia Journal: Pediatr Res Date: 1999-11 Impact factor: 3.756
Authors: J M Lipton; N Federman; Y Khabbaze; C L Schwartz; L M Hilliard; J I Clark; A Vlachos Journal: J Pediatr Hematol Oncol Date: 2001-01 Impact factor: 1.289
Authors: Andrew C Dietz; Sharon A Savage; Adrianna Vlachos; Parinda A Mehta; Dorine Bresters; Jakub Tolar; Carmem Bonfim; Jean Hugues Dalle; Josu de la Fuente; Roderick Skinner; Farid Boulad; Christine N Duncan; K Scott Baker; Michael A Pulsipher; Jeffrey M Lipton; John E Wagner; Blanche P Alter Journal: Biol Blood Marrow Transplant Date: 2017-05-19 Impact factor: 5.742
Authors: Andrew C Dietz; Parinda A Mehta; Adrianna Vlachos; Sharon A Savage; Dorine Bresters; Jakub Tolar; Farid Boulad; Jean Hugues Dalle; Carmem Bonfim; Josu de la Fuente; Christine N Duncan; K Scott Baker; Michael A Pulsipher; Jeffrey M Lipton; John E Wagner; Blanche P Alter Journal: Biol Blood Marrow Transplant Date: 2017-01-20 Impact factor: 5.742