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Ochronotic arthropathy-a rare clinical case
André Couto1, André Sá Rodrigues1, Paulo Oliveira1
1Serviço de Ortopedia e Traumatologia, Centro Hospitalar São João, Porto, Portugal.
Oxford Medical Case Reports
|September 4, 2018
Summary
Ochronotic arthropathy, a complication of alkaptonuria, involves pigment buildup causing joint issues. Early suspicion by orthopaedic surgeons is crucial for managing unexpected darkened cartilage during surgery.
Area of Science:
- Orthopaedics
- Genetics
- Rheumatology
Background:
- Alkaptonuria is a rare genetic disorder.
- It leads to ochronotic arthropathy due to homogentisic acid accumulation.
- Joint involvement typically manifests after age 30.
Observation:
- A 65-year-old woman presented with chronic hip and knee pain.
- Radiographic findings indicated end-stage osteoarthritis.
- Intraoperative visualization revealed black cartilage and joint capsule during hip and knee arthroplasty.
Findings:
- The patient was diagnosed with alkaptonuria postoperatively.
- The characteristic black pigment deposition was confirmed in joint tissues.
- This case highlights the clinical presentation of ochronotic arthropathy.
Implications:
- Orthopaedic surgeons should consider alkaptonuria in patients with atypical arthropathy.
- Awareness of ochronotic arthropathy aids in surgical preparedness.
- Timely diagnosis can prevent surgical surprises and guide patient management.
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