Endocrine Abstracts

JOINT45

Introduction: β-thalassemia major is a chronic hemolytic disorder that leads to iron overload due to frequent blood transfusions. This iron accumulation can cause a range of metabolic, endocrine, and skeletal complications. One rare but severe complication of β-thalassemia major is femoral osteonecrosis, a condition characterized by the loss of blood supply to the femoral head, resulting in progressive bone death. While more common in sickle cell disease, femoral osteonecrosis is less frequently reported in thalassemia patients. Early detection and management of this condition are crucial to preventing irreversible joint deformities and improving long-term functional outcomes.

Case Presentation: A 17-year-old female patient with β-thalassemia major, diagnosed at birth, was receiving regular blood transfusions every three weeks and iron chelation therapy. She was admitted for the evaluation of primary amenorrhea. On physical examination, the patient showed severe growth retardation with a weight of 30 kg and a height of 145 cm (BMI = 14 kg/m²). Vital signs were stable, and cardiovascular and pulmonary exams were unremarkable. Orthopedic examination showed limited hip movement with pain on mobilization. Imaging studies included a pelvic MRI confirmed bilateral femoral osteonecrosis. Additionally, a pituitary MRI demonstrated anterior pituitary atrophy, likely secondary to iron overload. Laboratory tests showed elevated ferritin levels, indicating iron overload, along with reduced FSH and estradiol levels, suggesting endocrine dysfunction.

Discussion: Femoral osteonecrosis is a rare but serious complication in β-thalassemia major patients, with potential mechanisms including chronic anemia, iron overload, and marrow hyperplasia. Iron overload can damage tissues and disrupt blood flow, particularly in bones such as the femoral head, contributing to osteonecrosis. Marrow hyperplasia in thalassemia can also compress blood vessels, further compromising blood supply. Although femoral osteonecrosis is commonly seen in sickle cell disease, its occurrence in β-thalassemia major underscores the importance of vigilant musculoskeletal monitoring in these patients. Early detection through clinical and radiological assessment is crucial, as delayed diagnosis can lead to joint deformities, chronic pain, and loss of function.

Conclusion: This case emphasizes the need for early identification and regular monitoring of skeletal complications in patients with β-thalassemia major. While femoral osteonecrosis is a rare complication, its impact on a patient’s quality of life can be significant if not detected and managed promptly. Multidisciplinary care, including appropriate management of iron overload and timely orthopedic intervention, is essential to prevent long-term functional impairment. Regular musculoskeletal evaluation is recommended to ensure early detection and intervention for this potentially debilitating condition.