[Case report of a patient with ochronosis and arthroplasty of the hip and both knees]

Abstract

Alkaptonuria is a rare hereditary metabolic disorder characterised by absence of the enzyme homogentisic acid oxidase. As a result of this defect homogentisic acid accumulates and is excreted in the urine. The term ochronosis is used to describe bluish-black pigmentation of connective tissue. Ochronotic arthropathy results from the pigmented deposits in the joints of the appendicular and axial skeleton. Findings simulate those of uncomplicated degenerative joint disease, with effusion, articular space narrowing, and bony sclerosis. Our patient is a 70-year old male with ochronotic arthropathy. He has typical ears and sclera discoloration, and had arthroplasty of knees 7 and 4 years ago, respectively. In year 2002, he had undergone total right hip arthroplasty and has been admitted for rehabilitation 14th postoperative day. Individually designed rehabilitation regimen included kinesitherapy, hydrokinesitherapy, and ambulation training with gradual increase in weight bearing exercises and electro-analgesia of associated low back pain. In course of rehabilitation our patient improved his endurance with satisfying range of motion of right hip (flexion 90 degrees, abduction 40 degrees) and strength of hip and thigh musculature. The patient was able to walk with crutches without limitation. We conclude that joint destruction followed by painful locomotion due to ochronotic arthropathy is best treated by total joint arthroplasty, as described in our patient.