Arthroscopic ankle arthrodesis in two alkaptonuria patients

Area of Science:

• Medical Genetics
• Rheumatology
• Biochemistry

Background:

• Alkaptonuria is a rare genetic disorder caused by homogentisic acid 1,2 dioxygenase deficiency.
• This leads to homogentisic acid accumulation and ochronosis, affecting connective tissues.
• Ochronosis causes proteoglycan deterioration in hyaline cartilage, resulting in destructive arthritis.

Observation:

• Ochronotic arthritis typically manifests between 40-60 years of age.
• Patients often receive symptomatic treatment for the condition.
• This study reports on two patients with ochronotic arthritis treated with ankle arthrodesis.

Findings:

• Ankle arthrodesis led to improved postoperative clinical scores in all treated ankles.
• However, the fusion process required a prolonged duration.
• Early postoperative symptomatic subtalar arthropathy was observed in these patients.

Implications:

• Ankle arthrodesis may offer clinical benefits for ochronotic arthritis.
• The findings highlight potential complications, including delayed fusion and subtalar joint issues.
• Further research is needed to optimize surgical management for this rare condition.