Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
Although commonly detected early in life, alkaptonuria, a rare congenital metabolic disorder, can be challenging to diagnosis and treat in older patients.
Aaron Reyes is an Internal Medicine Resident at New York University Langone Medical Center, New York City. Leila Hashemi is a Primary Care Attending Physician and Ambulatory Care Clerkship Director at the VA Greater Los Angeles Healthcare System and Assistant Clinical Professor at the David Geffen School of Medicine at University of California Los Angeles. At the time the article was written Dr. Reyes was a Medical Student at the David Geffen School of Medicine. Correspondence: Aaron Reyes (aaron.z.reyes @gmail.com)
Author Disclosures The authors report no actual or potential conflicts of interest with regard to this article.
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Conclusion
Alkaptonuria is a rare autosomal recessive metabolic disorder that has a progressively debilitating pathophysiologic course spanning decades of a patient’s life. Its low prevalence and gradually progressive nature make it a difficult diagnosis to make without clinical suspicion. In patients with early-onset degenerative joint disease, tendinopathy, and cartilage or skin discoloration, congenital metabolic disorders like alkaptonuria should be considered.
As this case shows, suspicion and diagnosis can occur during surgical intervention in which tendon discoloration is directly visualized, especially in patients without prominent skin or cartilage discoloration. Once the diagnosis is made through elevated levels of urine HGA, there are 3 management strategies, including decreasing homogentisic acid buildup, providing symptom management, and monitoring for arthropathic, CV, and genitourinary complications.
