Alkaptonuria with multiple ochronotic arthropathy in a Taiwanese female patient: a case report of a rare disease and literature review

10.6492/FJMD.202208_13(3).0005

Che Lin；Kwok-Man Tong；Cheng-Chi Wang；Kun-Hui Chen；Yee-Jee Jan；Chung-Yen Tseng；Chung Yuh Tzeng

alkaptonuria ； consanguineous marriage ； homogentisic acid oxidase enzyme ； ochronotic arthropathy

Formosan Journal of Musculoskeletal Disorders

13卷3期（2022 / 08 / 01）

135 - 142

英文

Alkaptonuria is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase enzyme. Ochronotic arthropathy (OcA) is an uncommon condition and patients with the end stage of this disease may require total joint arthroplasty. To date, alkaptonuria with multiple OcA has not been reported in the Taiwanese population. This disease is difficult to accurately diagnose through preoperative radiographic examination because of its rarity and the limited clinical literature on its diagnosis through physical examinations. The disease is usually more apparent during an operation; thus, a differential diagnosis is usually made on the basis of intraoperative findings. Although a consensus on the use of conservative treatment has not yet been reached, our experience with our patient can provide orthopedic surgeons and other clinicians with useful information regarding this rare disease; this case report also serves as a reminder of the differences and abnormalities encountered during clinical assessment.