Abstract
INTRODUCTION: Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, leading to the accumulation of HGA. The polymerized oxidation products of HGA in connective tissues, a condition known as ochronosis. These deposits primarily affect cartilage and joints, resulting in progressive degeneration. Clinical manifestations typically appear after the age of 30 and include dark urine, bluish-black connective tissue pigmentation, and early-onset arthritis, especially of the spine and large joints. CASE REPORT: A 75-year-old female presented with right hip and wrist fractures following a fall. She had a 15-year history of stooped posture and a family history of similar symptoms. Radiographs revealed a transcervical femur fracture, distal radius fracture, and calcified intervertebral disks with kyphotic spinal deformity. Routine labs were within normal limits. During hip surgery, blackish discoloration of the femoral head and acetabulum was observed. Similarly, the flexor carpi radialis tendon appeared black during wrist surgery. Clinical re-evaluation revealed black scleral pigmentation and bluish-black ear cartilage. A urine HGA test confirmed ochronosis. HLA-B27 testing was negative, excluding seronegative spondyloarthropathies. Post-operative recovery was uneventful. CONCLUSION: This case highlights the importance of considering ochronosis in elderly patients presenting with joint degeneration and intervertebral disk calcification. Characteristic pigmentation observed intraoperatively should prompt further investigation. Early recognition is crucial to differentiate from other degenerative conditions and guide appropriate management. Clinicians should maintain a high index of suspicion, particularly when supported by clinical history and radiological findings.