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Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report.
- Source :
-
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2021 Feb 23; Vol. 19 (1), pp. 20. Date of Electronic Publication: 2021 Feb 23. - Publication Year :
- 2021
-
Abstract
- Background: Systemic lupus erythematosus is a multi-organ inflammatory autoimmune disease; immune complexes are part of the pathogenesis, but not entirely responsible. Trisomy X is the most common female chromosomal abnormality and the role of an additional X chromosome in the development of systemic lupus erythematosus is well recognized. However, the potential complications and optimal management of childhood lupus with trisomy X remain unclear. Herein, we describe a case of childhood-onset systemic lupus erythematosus associated with severe bone complications presumably secondary to trisomy X.<br />Case Presentation: A 16-year-old Japanese girl was diagnosed with childhood-onset systemic lupus erythematosus and trisomy X. A chromosomal abnormality (47, XXX) was incidentally identified on bone marrow examination initially done to determine the cause of pancytopenia. She had a persistent headache, fever for six days, diffuse hair loss, mucosal ulcers, butterfly eruptions, and palmar erythema. Furthermore, thrombocytopenia, anemia, and erythrocyte fragmentation were detected, suggesting secondary thrombotic microangiopathy. She was initially treated with intravenous methylprednisolone pulse therapy and prescribed monthly cyclophosphamide for severe disease activity, prednisolone, mycophenolate mofetil, and hydroxychloroquine as remission maintenance drugs. She developed generalized extremity pain that had been worsening throughout the disease. Extremity magnetic resonance imaging performed 12 months after the treatment onset revealed multifocal avascular necrosis, and dual-energy X-ray absorptiometry revealed further decreased bone mineral density. High plasma levels of factor VIII were detected by additional tests for coagulation functions, and we suspected the possibility that factor VIII might cause avascular necrosis due to thrombosis. Currently, she is being treated with prednisolone and MMF for SLE. However, her extremity pain has not been managed effectively even under the administration of non-steroidal anti-inflammatory drugs and pregabalin.<br />Conclusions: An additional X chromosome has been reported to be associated with factor VIII and osteoporosis. Additionally, elevated plasma levels of FVIII is the risk factors for thrombosis, which leads to the risk of avascular necrosis. Patients with systemic lupus erythematosus complicated by trisomy X might be at a higher risk of avascular necrosis and osteoporosis that can also manifest in childhood systemic lupus erythematosus.
- Subjects :
- Adolescent
Antirheumatic Agents administration & dosage
Antirheumatic Agents adverse effects
Bone Marrow Examination methods
Chromosomes, Human, X
Cyclophosphamide administration & dosage
Cyclophosphamide adverse effects
Female
Humans
Medication Therapy Management
Methylprednisolone administration & dosage
Methylprednisolone adverse effects
Mycophenolic Acid administration & dosage
Mycophenolic Acid adverse effects
Severity of Illness Index
Thrombosis blood
Thrombosis diagnosis
Thrombosis etiology
Factor VIII analysis
Lupus Erythematosus, Systemic diagnosis
Lupus Erythematosus, Systemic physiopathology
Lupus Erythematosus, Systemic therapy
Osteonecrosis blood
Osteonecrosis diagnostic imaging
Osteonecrosis etiology
Osteoporosis diagnostic imaging
Osteoporosis etiology
Pancytopenia diagnosis
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development diagnosis
Sex Chromosome Disorders of Sex Development physiopathology
Sex Chromosome Disorders of Sex Development therapy
Trisomy diagnosis
Trisomy physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1546-0096
- Volume :
- 19
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Pediatric rheumatology online journal
- Publication Type :
- Academic Journal
- Accession number :
- 33622323
- Full Text :
- https://doi.org/10.1186/s12969-021-00507-3