AI Article Synopsis

  • - Alkaptonuria is a rare genetic disorder that affects the metabolism of homogentisic acid, leading to a condition called ochronotic arthropathy, which impacts major joints like the spine and knees, often going undiagnosed until adulthood.
  • - A case study details a 43-year-old man who was diagnosed with this condition during surgery and successfully underwent joint replacements in multiple areas over 10 years, maintaining full mobility without implant issues after 11 years.
  • - The findings suggest that total joint arthroplasty can yield positive long-term outcomes for patients with ochronotic arthropathy, but surgeons must be vigilant about inherent surgical difficulties and potential complications during treatment.

Article Abstract

Introduction: Alkaptonuria is a rare autosomal recessive disorder caused by the defective metabolism of homogentisic acid, with a rare course and remained undetected even until adulthood. Ochronotic arthropathy is one of the manifestations of alkaptonuria, predominantly affecting weight bearing joints such as spine, hip, and knee. Total joint arthroplasty is treatment of choice in end-stage arthritis of hip and knee. Owing to the rarity of the disease, limited data is available in literature regarding surgical challenges and long-term functional outcomes.

Case Report: Herein, we present a case of 43-year-old male with ochronotic arthropathy of bilateral hip, right knee, and bilateral elbow joints with involvement of spine, who was incidentally diagnosed with ochronotic arthropathy intraoperatively and underwent sequential arthroplasty for right hip followed by right knee and left hip over a period of 10 years. At 11 years' follow-up, the patient has full mobility with no loosening of implants.

Conclusion: The long-term results of total joint arthroplasty in ochronotic arthropathy are good. Surgeon should be aware of the difficulty in soft tissue balancing and possible complications in the ochronotic arthropathy and require a conscientious approach to avoid complications.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10898682PMC
http://dx.doi.org/10.13107/jocr.2024.v14.i02.4224DOI Listing

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