In the 20-year-old patient increasing arthralgia since the age of seven years had caused functional impairment. As seronegative osteodestructive rheumatoid arthritis had been suspected, he was treated with methotrexate and steorid for ovemore than one year, without success.r
The clinical examination revealed a compromised function of the knee and hip joints. Conventional radiographs showed severe degenerative changes in these regions. The radiographs of the lumbar and the thoracic spine were suggestive of osteoporotic fractures.
The clinical and radiological findings led to the suspicion of a hereditary collagenous disease. Genetic analyses revealed a COL2A1 mutation. The treatment included analgesics, non-steroidal antirheumatic drugs, opiates and regular physiotherapy to build up and maintain muscle strength.
In young adult patients with osteoarthritis mutations in the COL2A1 gene should considered. This mutation with the substitution pArg75Cys should be in focus because of the phenotypes in clinical manifestations.