Tribute to Professor André Vincent (1931-2023)

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.