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ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS
Hassan Zmerly1,2, Manuela Moscato1, Valentina Di Gregori1
1UCM Malta, Ludes Lugano Campus, Lugano, Switzerland.
Summary
Alkaptonuria causes ochronotic arthropathy, a rare condition affecting joints. This case study highlights successful hip and knee replacement surgery in a patient with this disabling metabolic disorder.
Area of Science:
- Orthopedics
- Metabolic Bone Disease
- Genetics
Background:
- Alkaptonuria is an ultra-rare inherited metabolic disorder.
- Characterized by homogentisic acid buildup, leading to black pigmentation of connective tissues.
- Ochronotic arthropathy, a severe degenerative joint disease, is a primary complication.
Observation:
- A 66-year-old male presented with severe joint disruption due to alkaptonuria.
- Musculoskeletal manifestations included significant damage to large joints.
- The patient had multiple comorbidities associated with alkaptonuria.
Findings:
- Successful surgical treatment with total left hip and total right knee arthroplasty.
- Joint prosthesis survival and stability were key considerations.
- The patient experienced positive functional outcomes post-surgery.
Implications:
- Surgical, anesthetic, and postoperative care require heightened vigilance in alkaptonuria patients.
- Management strategies must address the unique challenges of metabolic bone disease.
- This case demonstrates the feasibility of joint replacement in advanced ochronotic arthropathy.
