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Updated: Dec 26 2023


  • summary
    • Ochronosis is a metabolic arthropathy caused by alkaptonuria with excess homogentistic acid deposited in the joints. Patients present with early degenerative joint disease, spondylitis, and black urine. 
    • Diagnosis is made with detection of homogentisic acid in urine.
    • Treatment is similar to that of osteoarthritis with observation, NSAIDs, tramadol and corticosteroids for mild to moderate symptoms. Arthroplasty is indicated for severe symptoms.
  • Etiology
    • Pathophysiology
      • excess homogentistic acid is deposited in the joints
      • acid polymerizes in joint and leads to early joint arthritis
    • Genetics
      • rare inborn defect in homogentisic acid oxidase enzyme system
    • Associated conditions
      • orthopaedic manifestations
        • ochronotic spondylitis
          • commonly occurs in fourth decade
          • progressive degenerative changes in spine
            • calcification
            • narrowing of disc spaces
  • Presentation
    • Symptoms
      • may complain of black urine
        • caused by polymerization of homogentistic acid
  • Imaging
    • Radiographs
      • spine
        • findings
          • irregular calcification
          • narrowing of intervertebral discs
  • Treatment
    • Nonoperative
      • no current medical treatment available
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