Should a rheumatologist (specialist in rheumatic diseases) see a patient with multiple epiphyseal dysplasia?

Management of Multiple Epiphyseal Dysplasia: Role of Rheumatology

Patients with multiple epiphyseal dysplasia should be evaluated by a rheumatologist as part of their multidisciplinary care team, especially when presenting with joint pain, inflammation, or early-onset osteoarthritis. 1

Understanding Multiple Epiphyseal Dysplasia (MED)

Multiple epiphyseal dysplasia is a rare congenital skeletal dysplasia characterized by:

• Delayed appearance and irregular formation of epiphyses in long bones
• Joint pain beginning in childhood or adolescence
• Early-onset osteoarthritis
• Mild short stature
• Symmetric involvement of peripheral weight-bearing and non-weight-bearing joints 2

MED can be inherited in autosomal dominant or recessive patterns, with mutations in several genes including MATN3 (matrilin-3) gene at 2p24.1 location for type 5 MED 3.

Why Rheumatology Involvement is Necessary

1. Expertise in Joint Disorders

   • Rheumatologists are specialists in musculoskeletal conditions and joint disorders 1, 4
   • They have expertise in diagnosing and managing chronic joint pain, which is a primary symptom of MED 3

2. Differential Diagnosis

   • Patients with MED often present with non-healing, unidentified joint pain that can mimic inflammatory arthritis 3
   • Rheumatologists can differentiate between primary skeletal dysplasia and inflammatory joint conditions 1

3. Management of Secondary Complications

   • Early-onset osteoarthritis is a common complication of MED 5
   • Rheumatologists specialize in managing osteoarthritis and can help delay its progression 1

4. Coordination of Multidisciplinary Care

   • According to European guidelines, rheumatologists have a lead role in developing and managing clinical services for musculoskeletal problems 1
   • They work closely with orthopedic surgeons, who may need to intervene for joint deformities or habitual dislocations 2, 6

Clinical Approach to MED by Rheumatologists

Assessment

• Detailed evaluation of joint pain patterns and distribution
• Assessment of joint function and mobility
• Monitoring for early signs of osteoarthritis
• Screening for associated conditions

Management

• Pain management strategies
• Joint protection techniques
• Physical therapy recommendations
• Monitoring disease progression
• Coordination with orthopedic surgeons for surgical interventions when needed

Surgical Considerations

When conservative management fails, surgical interventions may be required:

• Hip deformities may require intertrochanteric extension osteotomy or trochanter arthroplasty 2
• Patella dislocations can be managed with medialisation of the tibial tuberosity 6
• Advanced osteoarthritis may eventually require total joint arthroplasty, typically in the third or fourth decade of life 5
• Arthroscopic loose body removal may be effective for locking symptoms 7

Pitfalls to Avoid

1. Delayed Diagnosis

   • MED symptoms may be mistaken for growing pains or other more common conditions
   • Persistent joint pain in children should prompt consideration of skeletal dysplasia 3

2. Inadequate Multidisciplinary Approach

   • Management requires coordination between rheumatology, orthopedics, genetics, and rehabilitation services 1

3. Overlooking Genetic Counseling

   • Given the hereditary nature of MED, genetic counseling is essential for patients and families 3

4. Focusing Only on Symptomatic Treatment

   • Long-term monitoring is necessary due to the progressive nature of the condition 2

In conclusion, while orthopedic surgeons often manage the structural aspects and surgical interventions for MED, rheumatologists play a crucial role in comprehensive care, particularly for ongoing joint pain management, monitoring for early osteoarthritis, and coordinating multidisciplinary care for these patients.