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
QUESTIONS 1 of 1 1 Previous Next (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: A B C D Type & Select Correct Answer 1 Disseminated idiopathic skeletal hyperostosis (DISH) 5% (82/1496) 2 Ochronosis (alkaptonuria) 67% (999/1496) 3 Chondrodysplasia punctata (Conradi–Hünerman) 1% (21/1496) 4 Homocystinuria 19% (289/1496) 5 Ankylosing spondylitis 7% (100/1496) L 1 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic
All Videos (1) Podcasts (1) Login to View Community Videos Login to View Community Videos Knee arthroscopy of patient with ochronosis Michael Hughes Basic Science - Ochronosis D 5/5/2012 713 views 2.3 (3) Basic Science⎪ Ochronosis Basic Science - Ochronosis Listen Now 4:27 min 12/2/2020 73 plays 5.0 (1)