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Tribute to Professor André Vincent (1931-2023).

O Cornu, T Schubert, X Libouton

    Acta Orthopaedica Belgica
    |January 24, 2025
    PubMed
    Summary
    This summary is machine-generated.

    Alkaptonuria (AKU), a rare metabolic disorder, causes ochronosis and severe joint disease. Total joint replacement effectively relieved pain and restored function in a patient with severe ochronotic arthritis.

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    Area of Science:

    • Metabolic Disorders
    • Rheumatology
    • Genetics

    Background:

    • Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
    • It results from homogentisic acid oxidase deficiency, leading to homogentisic acid accumulation.
    • Key features include homogentisic aciduria, ochronosis (connective tissue discoloration), and arthropathy.

    Purpose of the Study:

    • To present a case of severe ochronotic arthritis in a middle-aged female patient.
    • To evaluate the efficacy of total joint replacement in managing AKU-related arthropathy.
    • To highlight the clinical outcomes of surgical intervention for ochronosis-induced joint disease.

    Main Methods:

    • Case report of a middle-aged female patient with AKU.
    • Staged total joint replacement procedures for bilateral hip and shoulder joints.
    • Assessment of pain relief, clinical outcomes, and functional recovery post-surgery.

    Main Results:

    • The patient presented with severe bilateral ochronotic arthritis affecting hips and shoulders.
    • Total joint replacements were performed without complications.
    • The procedures resulted in complete pain relief and satisfactory clinical and functional outcomes.

    Conclusions:

    • Ochronosis, a complication of AKU, can lead to severe peripheral joint arthropathy.
    • Multiple joint involvement is frequently observed in ochronotic arthropathy.
    • Total joint replacement offers a viable solution for persistent pain relief and functional recovery in severe cases.