Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature.

Introduction: Alkaptonuria is a rare metabolic disorder of autosomal recessive pattern of inheritance caused due to homogentisic acid oxidase enzyme deficiency. As a result, polymers of homogentisic acid get deposited in excessive amounts in the connective tissues, leading to brownish-black pigmentation termed as ochronosis. As the disease progresses, chronic inflammation results in arthritis of large weight-bearing joints.

Case Report: A 70-year-old female patient presented with complaints of being non-ambulatory since the past 10 days. She gave a history of difficulty in walking for the past 10-15 years associated with pain in the right hip which did not respond to analgesics and physiotherapy. The radiological assessment revealed severe joint destruction of the right hip. The patient underwent a total hip arthroplasty. A provisional diagnosis of ochronosis was made intraoperatively which was later confirmed on histopathological examination of the tissue.

Conclusion: At present, there is still no known effective medical treatment to halt alkaptonuria entirely. Ochronotic arthropathy is usually managed conservatively. However, for severely involved hip joints, arthroplasty can provide extremely good results.