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Related Experiment Video

Updated: Aug 8, 2025

In Vivo Quantification of Hip Arthrokinematics during Dynamic Weight-bearing Activities using Dual Fluoroscopy
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Ochronotic hip arthropathy - A case report.

Abhishek Jirel1, Nirvin Paul2, Raghavendra Kaganur2

  • 1Department of Orthopaedics, United Mission of Nepal Hospital, Tansen, Palpa - 32500. Nepal.

Journal of Orthopaedic Case Reports
|March 6, 2023
PubMed
Summary

This case report describes the treatment of a hip fracture in a patient with ochronotic arthropathy, a rare genetic condition caused by a mutation in the HGD gene. The patient, a 62-year-old man, experienced sudden left hip pain and difficulty bearing weight. After diagnosis, primary hip arthroplasty was performed successfully. The patient recovered well, with outcomes similar to those seen in osteoarthritis arthroplasty cases. The report suggests that standard arthroplasty techniques can be effective for this rare condition.

Keywords:
Ochronotic arthropathyalkaptonuriablackening of urineochronosisOchronotic hip arthropathyPrimary hip arthroplastyGenetic joint disordersRare metabolic conditions

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Area of Science:

  • Orthopedic surgery outcomes research within musculoskeletal medicine
  • Genetic disease management in metabolic disorders
  • Arthroplasty techniques in joint replacement surgery

Background:

Ochronotic arthropathy is a rare condition that affects joint health. It is linked to alkaptonuria, a genetic disorder caused by a mutation in the HGD gene. This mutation leads to enzyme deficiency and the accumulation of homogentisic acid. The condition is associated with progressive joint degeneration, particularly in weight-bearing joints like the hips. Prior research has shown that ochronotic arthropathy is uncommon and tends to affect isolated populations. Established knowledge includes the association between HGD deficiency and joint deterioration. However, the specific management of hip fractures in these patients remains understudied. This gap motivated the investigation of surgical approaches for ochronotic hip arthropathy.

Purpose Of The Study:

This case report aimed to document the management of a hip fracture in a patient with ochronotic arthropathy. The specific problem addressed was the lack of detailed reports on surgical interventions for this rare condition. The motivation stemmed from the need to understand treatment outcomes in such cases. The authors sought to describe a successful surgical approach using primary hip arthroplasty. The study focused on a 62-year-old male with a sudden onset of left hip pain and difficulty bearing weight. The goal was to evaluate whether standard arthroplasty techniques could be applied effectively. The report also aimed to highlight diagnostic and intraoperative findings specific to ochronotic arthropathy.

Main Methods:

The study involved a single patient diagnosed with ochronotic arthropathy following a hip fracture. Diagnostic methods included patient history, radiological imaging, and intraoperative observations. The patient presented with sudden left hip pain and weight-bearing difficulties. No significant trauma was reported prior to the incident. Radiological findings confirmed the presence of ochronotic changes in the hip joint. Intraoperative findings were consistent with ochronotic arthropathy. The surgical approach used was primary hip arthroplasty. Postoperative outcomes were monitored to assess the effectiveness of the procedure.

Main Results:

The patient underwent primary hip arthroplasty for a neck femur fracture caused by ochronotic arthropathy. Radiological and intraoperative findings confirmed the diagnosis. The patient was a 62-year-old male with sudden onset of left hip pain. No prior hip issues were reported. The surgical procedure was performed without complications. Postoperative recovery was uneventful. The patient regained weight-bearing ability. Outcomes were comparable to those seen in osteoarthritis arthroplasty cases.

Conclusions:

The authors concluded that primary hip arthroplasty is a viable treatment option for ochronotic hip arthropathy. The procedure resulted in successful weight-bearing recovery and pain relief. Outcomes were similar to those observed in osteoarthritis arthroplasty. The case supports the use of standard arthroplasty techniques in managing this rare condition. The report highlights the importance of accurate diagnosis in guiding treatment decisions. The authors suggest that further case studies are needed to confirm these findings. The study contributes to the limited literature on surgical management of ochronotic arthropathy. The findings align with prior knowledge of arthroplasty effectiveness in joint degenerative conditions.

Ochronotic hip arthropathy is a rare joint condition caused by alkaptonuria, a genetic disorder linked to HGD gene mutations.

Diagnosis involves patient history, radiological imaging, and intraoperative findings consistent with joint degeneration.

Primary hip arthroplasty was selected as a treatment option due to its effectiveness in managing joint degeneration.

The patient regained weight-bearing ability and experienced pain relief after the arthroplasty.

Outcomes were comparable to those seen in osteoarthritis arthroplasty, with successful recovery and pain relief.

This report highlights the use of standard arthroplasty techniques in managing a rare joint condition.