Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome

• Published in: Osteoporosis international 2018-01, Vol.29 (1), p.237-241
• Main Authors: Robinson, C., Boyce, A. M., Estrada, A., Kleiner, D. E., Mathew, R., Stanton, R., Frangoul, H., Collins, M. T.
• Format: Article
• Language: English
• Subjects: Adolescent; Anemia, Aplastic - etiology; Anemia, Aplastic - pathology; Anemia, Aplastic - surgery; Biopsy; Blood transfusion; Bone dysplasia; Bone marrow; Bone Marrow - pathology; Bone Marrow Diseases - etiology; Bone Marrow Diseases - pathology; Bone Marrow Diseases - surgery; Bone Marrow Failure Disorders; Case Report; Endocrine disorders; Endocrinology; Etiology; Female; Fibrous dysplasia; Fibrous Dysplasia, Polyostotic - complications; Fibrous Dysplasia, Polyostotic - diagnostic imaging; Fibrous Dysplasia, Polyostotic - physiopathology; Hematopoiesis, Extramedullary - physiology; Hemoglobinuria, Paroxysmal - etiology; Hemoglobinuria, Paroxysmal - pathology; Hemoglobinuria, Paroxysmal - surgery; Humans; Hyperparathyroidism; Liver - pathology; McCune-Albright syndrome; Medicine; Medicine & Public Health; Orthopedics; Pancytopenia; Pancytopenia - etiology; Pancytopenia - surgery; Radiography; Rheumatology; Splenectomy; Splenomegaly; Thyrotoxicosis
• ISSN: 0937-941X; 1433-2965
• DOI: 10.1007/s00198-017-4217-7

In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism. Pancytopenia, requiring monthly blood transfusions, persisted despite multiple strategies to correct these endocrinopathies. Due to worsening painful splenomegaly, likely as a result of sequestration, splenectomy was performed. Following splenectomy, pancytopenia resolved and patient has since been transfusion-independent. We report the first detailed case of bone marrow failure and EMH in FD/MAS. The etiology of marrow failure is likely multifactorial and related to the loss of marrow reserve due to extensive polyostotic FD, exacerbated by iatrogenic thyrotoxicosis and hyperparathyroidism. Mini Abstract: A patient with fibrous dysplasia developed bone marrow failure and extramedullary hematopoiesis. The etiology likely involved loss of hematopoetic marrow space and uncontrolled endocrinopathies. Splenectomy was therapeutic.