First Documented Hip Replacement in a Palestinian Patient with Ochronotic Alkaptonuria Arthropathy: A Case Report

Alkaptonuria (AKU) is a genetic disease caused by a deficiency in the homogentisate 1,2-dioxygenase enzyme. This deficiency leads to elevated levels of homogentisic acid and its oxidized form, benzoquinone acetic acid. Together, these substances lead to the bluish-black coloring of the bone and cartilage, along with calcification, inflammation, degeneration, and ultimately osteoporosis. The accumulation of pigments in the spine and major joints can result in ochronotic degenerative arthropathy.

In this study, we present the case of a 65-year-old Palestinian man who exhibited musculoskeletal manifestations of AKU for 15 years. He was successfully treated with hip replacement, and we conducted a literature analysis to provide a comprehensive summary of the etiology, clinical characteristics, and potential treatments.

AKU affects the spine and large joints. At present, there is no cure for this condition. A diet low in Vitamin C, antioxidants, tyrosine, and phenylalanine may delay the progression of AKU, but the long-term consequences are still unknown. Joint replacement may be recommended to relieve joint pain and improve mobility.