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.