Alkaptonuria and Ochronotic Arthropathy: The Path to Pain-Free Mobility

Abstract

This article discusses a case of ochronotic arthropathy, a manifestation of alkaptonuria. Alkaptonuria is characterized by the accumulation of homogentisic acid [HGA] in tissues, leading to a distinctive blue-black pigmentation and early joint degeneration. A 68-year-old female patient, with a history of alkaptonuria, presented with progressive hip pain and was eventually treated with an elective total hip replacement. Due to vertebral calcifications, the operation was performed under general anesthesia. Pre- and post-operative care was guided by the patient’s comorbidities and potential complications related to alkaptonuria, including potential cardiac and respiratory issues. Following surgery, the patient exhibited significant improvements in hip joint functionality. The paper also discusses the challenges in diagnosing alkaptonuria, the absence of definitive treatment, and the potential of dietary restrictions and symptomatic treatments. Moreover, it addresses surgical considerations for ochronotic arthropathy and emphasizes the role of regular calcium and vitamin D intake in maintaining bone quality. The success of the hip replacement surgery in this case suggests a potential intervention for managing ochronotic arthropathy in alkaptonuria patients.