Vol. 5, Issue 1, Part A (2023)

Background: Alkaptonuria is an autosomal recessive trait that deals with dysfunctional catabolism of tyrosine. It is a very rare disorder presenting in early childhood but ignored and progresses later in adulthood to present similar to any arthritis. One specific feature of alkaptonuria is the accumulation homogentisic acid in connective tissue of the body. It is diagnosed as discoloration of urine in childhood and as osteoarthritis complicated by ochronosis in adulthood. The only identified treatment is symptomatic relief along with supplements. The main stay of treatment is to prevent complications.

Case: This case report represents an elderly female who was diagnosed with osteoarthritis at 40 years of age. The patient had multiple complications of osteoarthritis leading to the multiple replacements of her joints over the years. Patient was found with ochronosis on one of the previous surgeries but diagnosis was not changed. Later, prominent ochronosis was found on her right knee, on ear pinna, and on her sclera. Patient was put on symptomatic relief medication and referred to a rheumatologist. All in all, it is important to go through proper investigations and further look into the diagnosis done carefully. 
Conclusion: Alkaptonuria is a rare disease that is autosomally inherited in recessive manner and is hardly distinguishable from osteoarthritis. It is a combination between orthopedic and rheumatologist identification. Mainly charectarized by accumulation of the acid that causes bluish discoloration, alkaptonuria can be only treated through symptomatic relief. As a nutshell, it should be highly considered for proper diagnosis on presentation to prevent harmful complications.