Updated: 6/17/2021

Ochronosis

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  • 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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Questions (1)

(OBQ11.153) A 55-year-old male presents with a 6 month history of low back pain. Radiographs of the spine are shown in Figures A and B and a lateral knee radiograph is shown in Figure C. A urine specimen is exhibited in Figure D. What is the most likely diagnosis in this patient?

QID: 3576
FIGURES:
1

Disseminated idiopathic skeletal hyperostosis (DISH)

5%

(78/1441)

2

Ochronosis (alkaptonuria)

67%

(967/1441)

3

Chondrodysplasia punctata (Conradi–Hünerman)

1%

(20/1441)

4

Homocystinuria

19%

(277/1441)

5

Ankylosing spondylitis

7%

(94/1441)

L 3 C

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Evidence (4)
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