• Users Online: 542
  • Print this page
  • Email this page
Year : 2023  |  Volume : 11  |  Issue : 1  |  Page : 35-39

Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings

Department of Orthopaedics, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India

Correspondence Address:
Dr. Hemanth D Ramaiah
#8, Dr. Kuvempu Road, R S Palya, Kammanahalli Main Road, Bangalore
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JOASP.JOASP_10_23

Rights and Permissions

Alkaptonuria is a rare inborn error of metabolism disorder, with an incidence of one in a million births presenting with a triad of dark staining of urine, ochronosis, and Spondyloarthropathy. Till date, 1233 cases have been reported. Ochronotic arthropathy has often been a “serendipity,” with most diagnosis being made intraoperatively when the operating surgeons encountered “black” discs or “bluish-black cartilage. Spine involvement often precedes other musculoskeletal symptoms and begins after 30 years. Symptomatic treatment and arthroplasty form the mainstay of treatment as this disorder has no cure. We report a case of two brothers with a history of lumbar disc prolapse with radiculopathy, for which they underwent a surgery in their early thirties. They were asymptomatic for 6 years following the surgery before developing back stiffness and multiple large joint pains. The brothers were treated as HLA-B27 negative ankylosing spondylitis by multiple clinicians for 3 years before presenting to us with fused vertebrae, advanced arthritis of shoulder and knee, and avascular necrosis of bilateral femoral head. Alkaptonuria is a very rare disease; the symptoms of progressive low back ache/stiffness coupled with arthropathy of axial/weight bearing joints in an individual over 30 years should prompt the clinician to consider a diagnosis of alkaptonuri. Arthroplasty is the only solution to a pain-free functional life; however, it has its own complications. Hence, early diagnosis and lifestyle modifications might help delay the natural course of this debilitating disease until newer therapies emerge.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded48    
    Comments [Add]    

Recommend this journal