Description:
Multiple Epiphyseal Dysplasia (MED) is a form of skeletal dysplasia (dwarfing syndrome) that involves the oligomatrix protein (COMP). This protein is in the cartilage of joints. Having a problem with the protein means that arthritis (breakdown of the smooth cartilage) will often develop at a young age. Many people with MED may actually be average height but suffer from joint pain or severe bow legs or knock knees.
The most common feature across individuals with MED is joint pain and early-onset arthritis.
My Approach:
Because the articular cartilage (the cartilage that lines the joints) is defective in Multiple Epiphyseal Dysplasia, making it essential to maintain normal alignment and load across the joint for its longevity. My role is to help ensure the limbs remain straight. In children, this can often be achieved with a small procedure called ‘guided growth’ (using O-plates™ or 8-plates™), which allows the limb to grow into proper alignment. In adults, correction may require an osteotomy, a procedure where the bone is surgically realigned. If arthritis has already developed, I may refer patients to colleagues for joint replacement.
Patients are encouraged to stay fit as this is also crucial for safety of the joints.
Cause:
Multiple Epiphyseal Dysplasia is a genetic condition, most commonly inherited in an autosomal dominant pattern but sometimes autosomal recessive. Families may be unaware they carry the gene, noticing only a pattern of relatives needing joint replacements at a young age.
Diagnosis Methods:
Multiple Epiphyseal Dysplasia can often be diagnosed with X-rays and is confirmed with saliva genetic testing.
