Summary about Disease
Fairbank's disease, also known as multiple epiphyseal dysplasia (MED), is a genetic disorder affecting the growth of cartilage and bone. It primarily impacts the epiphyses, the growing ends of long bones. This leads to problems with joint development, causing pain, stiffness, and often early-onset osteoarthritis. The severity of the condition varies significantly among affected individuals.
Symptoms
Joint pain and stiffness (especially hips, knees, ankles)
Short stature (mild to moderate)
Knock knees (genu valgum) or bow legs (genu varum)
Irregularly shaped epiphyses (visible on X-rays)
Waddling gait
Fatigue after activity
Hand and foot deformities (less common)
Early-onset osteoarthritis
Causes
MED is caused by mutations in genes that are important for cartilage and bone development. Several genes have been identified, including:
COMP (most common)
COL9A1, *COL9A2*, *COL9A3*
MATN3 These mutations are usually inherited, with both autosomal dominant and autosomal recessive inheritance patterns possible depending on the specific gene involved. In some cases, the mutation may occur spontaneously (de novo).
Medicine Used
There is no cure for MED, so treatment focuses on managing symptoms and improving quality of life. Medications may include:
Pain relievers: Over-the-counter pain relievers (acetaminophen, ibuprofen) or prescription NSAIDs for pain management.
Chondroprotectives: Some doctors recommend chondroprotectives like glucosamine and chondroitin, although their effectiveness for MED is not definitively proven.
Injections: Corticosteroid injections may be used to reduce inflammation in joints, but are not a long-term solution. Hyaluronic acid injections are also an option for some.
Is Communicable
No. Fairbank's disease (Multiple epiphyseal dysplasia) is a genetic condition and not communicable. It cannot be spread from person to person through any infectious means.
Precautions
Low-impact exercise: Activities like swimming, cycling, and walking are preferred to minimize stress on joints.
Weight management: Maintaining a healthy weight reduces stress on weight-bearing joints.
Assistive devices: Canes, walkers, or orthotics may be needed to improve stability and reduce pain.
Regular check-ups: Monitor disease progression and adjust treatment plan as needed.
Genetic counseling: If planning a family, genetic counseling can assess the risk of passing on the condition.
Avoiding high-impact activities: Reduce activities that place excessive stress on the joints.
How long does an outbreak last?
Fairbank's disease isn't an "outbreak"-related illness. Since it's a genetic condition, it's a lifelong condition rather than something that comes and goes. Symptom severity can fluctuate, but the underlying condition remains.
How is it diagnosed?
Diagnosis typically involves:
Physical examination: Assessing for joint pain, stiffness, and deformities.
X-rays: Examining the shape and structure of the epiphyses.
Genetic testing: Identifying mutations in the genes associated with MED.
Family history: Inquiring about other family members with similar symptoms.
Growth monitoring: Comparing the patient's growth to normal growth charts.
Timeline of Symptoms
Early childhood (2-5 years): Symptoms may be subtle, such as a slightly waddling gait or reluctance to participate in physical activities.
Childhood (5-12 years): Joint pain and stiffness become more noticeable, especially after activity. Leg deformities (knock knees or bow legs) may become apparent. Short stature may be observed.
Adolescence: Symptoms tend to stabalize
Adulthood: Osteoarthritis develops, causing chronic pain and reduced mobility. This timeline can vary significantly among individuals. Some people may experience symptoms earlier or later in life, and the severity of symptoms can also differ.
Important Considerations
Variability: The severity of MED varies considerably. Some individuals have mild symptoms, while others have significant disability.
Osteoarthritis: Early-onset osteoarthritis is a common complication and can significantly impact quality of life.
Surgical options: Joint replacement surgery may be necessary in severe cases of osteoarthritis.
Psychological support: Chronic pain and physical limitations can lead to depression or anxiety. Psychological support and counseling can be beneficial.
Multidisciplinary care: Management requires a team approach involving orthopedic surgeons, rheumatologists, physical therapists, and other specialists.
Regular monitoring: Continued observation is needed to address changing symptoms.