Chondrocalcinosis with early-onset osteoarthritis
Chondrocalcinosis with Early-Onset Osteoarthritis[edit | edit source]
Chondrocalcinosis with early-onset osteoarthritis is a rare genetic disorder characterized by the deposition of calcium pyrophosphate dihydrate (CPPD) crystals in the cartilage, leading to joint pain and degeneration at an unusually young age. This condition is a subset of Chondrocalcinosis, which is more commonly associated with aging.
Pathophysiology[edit | edit source]
The primary feature of chondrocalcinosis is the accumulation of CPPD crystals in the cartilage. These crystals can cause inflammation and damage to the joint, leading to symptoms similar to those of osteoarthritis. In early-onset cases, genetic factors play a significant role, and the disease manifests earlier than typical osteoarthritis.
Genetics[edit | edit source]
Chondrocalcinosis with early-onset osteoarthritis is often linked to mutations in the ANKH gene, which is responsible for regulating pyrophosphate levels in the body. Mutations in this gene can lead to increased pyrophosphate production, promoting crystal formation in the cartilage.
Symptoms[edit | edit source]
- Joint pain and stiffness - Swelling and tenderness in affected joints - Reduced range of motion - Early onset of osteoarthritis symptoms, often before the age of 50
Diagnosis[edit | edit source]
Diagnosis of chondrocalcinosis with early-onset osteoarthritis typically involves:
- Clinical evaluation: Assessment of symptoms and family history.
- Imaging studies: X-rays or MRI to detect calcification in the cartilage.
- Synovial fluid analysis: Identification of CPPD crystals under a microscope.
Treatment[edit | edit source]
While there is no cure for chondrocalcinosis with early-onset osteoarthritis, treatment focuses on managing symptoms and improving joint function. Options include:
- Nonsteroidal anti-inflammatory drugs (NSAIDs): To reduce pain and inflammation.
- Physical therapy: To maintain joint mobility and strength.
- Joint injections: Corticosteroids or hyaluronic acid to relieve pain.
- Surgery: In severe cases, joint replacement may be considered.
Prognosis[edit | edit source]
The prognosis for individuals with chondrocalcinosis with early-onset osteoarthritis varies. While the condition can lead to significant joint damage and disability, early diagnosis and management can help improve quality of life and delay progression.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic and molecular mechanisms underlying chondrocalcinosis and to develop targeted therapies that can prevent or reduce crystal formation in the joints.
NIH genetic and rare disease info[edit source]
Chondrocalcinosis with early-onset osteoarthritis is a rare disease.
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Contributors: Prab R. Tumpati, MD
