Management of Bruck Syndrome
Bruck syndrome management requires a multidisciplinary approach focused on fracture prevention, joint contracture management, and addressing associated complications to improve quality of life and reduce morbidity and mortality.
Clinical Features and Diagnosis
Bruck syndrome is a rare autosomal recessive disorder characterized by:
- Bone fragility and recurrent fractures (similar to osteogenesis imperfecta)
- Congenital joint contractures (arthrogryposis)
- Progressive skeletal deformities leading to short stature
- Kyphoscoliosis
- Bilateral clubfoot and pectus carinatum
Genetic basis:
- Type 1: Mutations in FKBP10 gene
- Type 2: Mutations in PLOD2 gene
- Both types are phenotypically indistinguishable 1, 2
Comprehensive Management Approach
1. Fracture Management and Prevention
Bisphosphonate therapy is the cornerstone of treatment for bone fragility
- Helps reduce pain and fracture frequency
- Particularly important for pain management in severe cases 3
Orthopedic interventions:
- Prompt treatment of fractures with appropriate immobilization
- Surgical correction of severe deformities
- Intramedullary rodding for long bone stabilization in recurrent fractures
2. Joint Contracture Management
- Early physical therapy to improve joint mobility and prevent further contractures
- Occupational therapy to enhance functional independence
- Orthotic devices to support proper alignment and function
- Surgical release of severe contractures when conservative measures fail
3. Spinal Management
- Regular monitoring for scoliosis progression
- Bracing for moderate curves
- Surgical intervention for severe progressive curves affecting pulmonary function
4. Monitoring for Cardiac Complications
Recent evidence suggests potential cardiac involvement:
- Screening echocardiography is recommended due to reported cases with:
- Tricuspid valve dysplasia with severe regurgitation
- Mitral valve prolapse with moderate regurgitation
- Pulmonary hypertension 3
5. Pulmonary Management
- Regular pulmonary function testing
- Vigilance for pulmonary hemorrhage in severe cases
- Respiratory support as needed, particularly in cases with thoracic deformities
- Prompt treatment of respiratory infections 3
Special Considerations
Pregnancy Management
For women with Bruck syndrome who become pregnant:
- Comprehensive multidisciplinary care involving:
- Obstetric and fetal medicine specialists
- Midwives
- Anesthesiologists (for delivery planning)
- Geneticists (for counseling)
- Occupational therapists and physiotherapists 4
Prenatal Diagnosis
- Prenatal ultrasound may detect:
- Short long bones
- Fixed flexion of joints
- Intrauterine fractures
- Genetic testing through chromosomal microarray analysis can confirm diagnosis 1
Long-term Follow-up
- Regular orthopedic evaluation for fractures and deformities
- Monitoring of growth and development
- Ongoing physical and occupational therapy
- Psychological support for patients and families
- Genetic counseling for family planning
Emerging Treatments
While no curative treatment exists, research continues in:
- Gene therapy approaches
- Advanced bisphosphonate protocols
- Novel surgical techniques for contracture management
Prognosis
Prognosis varies based on:
- Severity of bone fragility
- Extent of joint contractures
- Presence of cardiopulmonary complications
- Early intervention and comprehensive management
The condition requires lifelong management with focus on improving quality of life and reducing complications.