Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome

摘要

McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions—precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.