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Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)
Amit Lahoti1,2, Yael T Harris2,3, Phyllis W Speiser1,2,4
1Division of Endocrinology, Cohen Children's Medical Center (CCMC), New Hyde Park, New York.
Insights
Endocrine disorders are common in Diamond-Blackfan anemia (DBA), affecting over half of patients. These issues, including adrenal insufficiency and hypogonadism, appear early and require further study.
Area of Science:
- Hematology
- Endocrinology
- Pediatric Medicine
Background:
- Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome.
- Current treatments include transfusions, glucocorticoids, and stem cell transplantation.
- Limited data exist on endocrine function in DBA patients.
Purpose of the Study:
- To assess the prevalence of various endocrinopathies in patients with DBA.
- To identify endocrine disorders in DBA patients across different treatment groups.
Main Methods:
- Retrospective and prospective data collection from 57 DBA patients (aged 1-39 years).
- Systematic screening of endocrine functions (pituitary, thyroid, adrenal, pancreas, gonadal).
- Analysis of anthropometric measurements and ferritin levels.
Main Results:
- 53% of patients had at least one endocrine disorder.
- Common disorders include adrenal insufficiency (32%), hypogonadism (29%), and hypothyroidism (14%).
- Low vitamin D levels (50%) and short stature were also noted; endocrinopathies were more frequent in transfused patients.
Conclusions:
- Endocrine dysfunction is prevalent in DBA patients, even in adolescence.
- Endocrinopathies occur across treatment groups (transfused, glucocorticoid-dependent, remission).
- Longitudinal studies are necessary to understand DBA-related endocrine disorder etiology and prevalence.
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.
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