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Metabolic Bone Disease in Children With Transfusion-Dependent Thalassemia
Koushik Handattu1, Shrikiran Aroor2, Pushpa Kini2
1Department of Pediatrics, Kasturba Medical College (Manipal Academy of Higher Education), Manipal, Karnataka. Correspondence to: Dr Koushik Handattu, Assistant Professor, Department of Paediatrics, Kasturba Medical College (Manipal Academy of Higher Education), Manipal, Karnataka. koushik.h@manipal.edu.
Insights
Transfusion-dependent thalassemia (TDT) patients frequently experience endocrine deficiencies and metabolic bone disease. Vertebral fractures are a significant concern, even in adolescents, highlighting the need for early screening and intervention.
Area of Science:
- Endocrinology
- Metabolic Bone Disease
- Pediatric Hematology
Background:
- Transfusion-dependent thalassemia (TDT) is a chronic condition requiring lifelong blood transfusions.
- Patients with TDT are at increased risk for endocrine dysfunction and metabolic bone abnormalities due to iron overload and chronic disease.
- Early detection of these complications is crucial for managing patient health and preventing long-term sequelae.
Purpose of the Study:
- To investigate the prevalence of metabolic bone disease and endocrinopathies in children and adolescents with TDT.
- To identify specific endocrine deficiencies and bone abnormalities in this patient cohort.
- To assess the association between vertebral fractures and endocrine dysfunction in TDT patients.
Main Methods:
- A prospective study involving 37 patients with TDT (age > 5 years) receiving regular blood transfusions.
- Comprehensive evaluation included screening for short stature, delayed puberty, diabetes mellitus, hypothyroidism, adrenal insufficiency, and hypoparathyroidism.
- Patients > 10 years underwent thoracolumbar spine X-rays and dual-energy X-ray absorptiometry (DXA) for bone density assessment.
Main Results:
- The most common endocrine deficiency was hypogonadism (62%), followed by short stature and abnormal glucose metabolism.
- Vitamin D insufficiency/deficiency was observed in 60% of patients; hypocalcemia in 2 patients.
- Low bone mass was present in 8 patients, and 4 patients had osteoporosis with vertebral fractures, often associated with hypogonadism and multiple endocrine deficiencies.
Conclusions:
- Vertebral fractures can occur in the second decade of life in TDT patients, frequently linked to hypogonadism and other endocrine issues.
- Early screening for metabolic bone disease and endocrinopathies is essential in TDT management.
- Proactive strategies are needed to prevent vertebral fractures and associated complications in this population.
Objective:
This study aimed to detect metabolic bone disease and endocrinopathies in a cohort of patients with transfusion-dependent thalassemia (TDT).
Methods:
This prospective study was conducted between March 2020 - August 2021. Children with TDT older than 5 years, receiving regular blood transfusion, underwent comprehensive endocrine and metabolic bone disease evaluation, which included screening for short stature, delayed puberty, diabetes mellitus, hypothyroidism, adrenal insufficiency and hypoparathyroidism. Children older than 10 years also underwent. X-ray of thoracolumbar spine, and dual energy X-ray absorptiometry (DXA) scanning.
Results:
Out of 37 patients (19 males), with mean (SD) age 15 (6) years, hypogonadism was the commonest endocrine deficiency seen in 15 (62%), followed by short stature, abnormal glucose metabolism, subclinical adrenal insufficiency, hypothyroidism, and hypoparathyroidism. Vitamin D insufficiency/deficiency was seen in 12 (60%) and hypocalcemia in 2 patients. Low bone mass was seen in 8, and osteoporosis, as evidenced by vertebral fractures, in 4 patients. Of the four patients with vertebral fracture, three were aged ≤18 years, one was symptomatic, two each had grade 1 and grade 2 fractures, one had multiple vertebral fractures, and all four had hypogonadism and multiple endocrine deficiencies.
Conclusion:
Vertebral fractures occur even in the second decade among patients with TDT, and are often associated with endocrinopathies, most commonly hypogonadism. Early screening and prevention of vertebral fractures is necessary.
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