Ochronotic arthropathy: Report of case and review of the literature
DOI:
https://doi.org/10.1016/S0120-8845(13)70015-4Keywords:
alkaptonuria, ochronosis, osteoarthritis/diagnosis, diagnosis, differential, case reports, evidence level: IVAbstract
Alkaptonuria is a hereditary disease that can be associated with homogentisic acid accumulation and cartilage weakening (ochronotic arthropathy). The case is presented of an 82 year-old male who showed an acute destruction of the hip joints, knees and shoulders. He received a total hip arthroplasty on his right side in 1992, and was not diagnosed with ochronosis. In 2007 he was diagnosed with hypertension, prostatism and cardiac valvulopathy, with macular degeneration, degenerative disc disease and cervical spondylarthrosis, also being present. The patient underwent multiple clinical, radiological, and pathological studies, which showed acute destructive arthropathy with morphological fragility of the cartilage, fibrosis, and dark pigmentation of the bone and cartilage. He was finally diagnosed with ochronotic arthropathy in 2010. Due to the low prevalence of this condition in our environment, which also reflects the difficulties in achieving a successful approach to a proper diagnosis and treatment, the orthopedic surgeon should have a high level of clinical suspicion provided by the knowledge of the existence of this disease.
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References
Munar W, Iglesias A. Alcaptonuria. Revist a Salud Uninorte. 1985;2:35-41.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med. 2002;347:2111-21. https://doi.org/10.1056/NEJMoa021736
Cetinus E, Cever I, Kural C, Ertur KH, Akyildiz M. Ochronotic arthritis: case reports and review of the literature. Rheumatol Int. 2005;25:465-8. https://doi.org/10.1007/s00296-004-0538-x
Tótha K, Kiss LZ, Lénártc E, Juhászd K, Takácse K, Benderf T, et al. Familiar ochronoticarthropathy-caused by a gene mutation traced three hundred years. Joint Bone Spine. 2010;77:355-7. https://doi.org/10.1016/j.jbspin.2010.03.007
Zhao BH, Chen BC, Shao DC, Zhang Q. Osteoart hrit is? Ochronotic arthritis! Knee Surg Sport s Traumatol Arthrosc. 2009;17:778-81. https://doi.org/10.1007/s00167-009-0778-0
Paul R, Ylinen S. The " whisker sign" as an indicator of ochronosis in skeletal scintigraphy. Eur J Nucl Med. 1991;18:222-4. https://doi.org/10.1007/BF02262733
Manoj Kumar RV, Rajasekaran S.Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br. 2003;85-B:883-6. https://doi.org/10.1302/0301-620X.85B6.13662
Koçyigit H, Gfirgan A, Terzioglu R, Gt irgan U. Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rheumatol. 1998;17:403-40. https://doi.org/10.1007/BF01450903
Ladj ouze-Reziga A, Aquaron RR. Alkaptonuria, ochronosis and ochronoticarthropathy. Revue du Rhumatisme Monographies. 2011;78:231-8. https://doi.org/10.1016/j.monrhu.2011.06.005
Thacker M, Garude S, Puri A. Ochronot icarthropat hy: arthroscopic findings in the shoulder and the knee. Arthroscopy. 2003;19:E70. https://doi.org/10.1016/S0749-8063(03)00744-8
Di Franco M, Coari G, Bonucci E. A morphological study of bone and articular cartilage in ochronosis. Virchow's Arch. 2000;436:74-81. https://doi.org/10.1007/PL00008202
Shimizu I, Hamada T, Khalpey Z, Miyanishi K, Hara T. Ochronoticart hropat hy: pathological evidence of acute destruction of the hip joint. Clin Rheumatol. 2007;26:1189-91. https://doi.org/10.1007/s10067-006-0326-y
Delialioglu OM, Daglar B, Bayrakci K, Ceyhan E, Tezel K, Erekul S, et al. Ochronosis: complicated tear of black meniscus. Knee Surg Sports Traumatol Arthrosc. 2010;18:540-2. https://doi.org/10.1007/s00167-009-0906-x
Lagier R, Sit'aj S. Vertebral changes in ochronosis. Ann Rheum Dis. 1974;33:86. https://doi.org/10.1136/ard.33.1.86
Gurkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Viena). 2006;148: 891-4. https://doi.org/10.1007/s00701-006-0774-9
Bayindir P, Ovali GY, Pabu;çu Y, Temiz C, Duruoz T. Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol. 2006;25:588-90. https://doi.org/10.1007/s10067-005-0033-0
Lagier R, Sit'aj S. Vertebral changes in ochronosis. Anatomical and radiological study of one case. Ann Rheum Dis. 1974;33:86. https://doi.org/10.1136/ard.33.1.86
Balaban B, Taskaynatan M, Yasar E, Tan K, Kalyon T. Ochronotics pondyloarthropathy: spinal involvement resembling ankylosing spondylitis. ClinRheumatol. 2006;25:598-601. https://doi.org/10.1007/s10067-005-0038-8
Int rone WJ, Perr y MB, Troendle J, Tsilou E, Kayser M, Suwannarat P, et al. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab. 2011;103:307-14. https://doi.org/10.1016/j.ymgme.2011.04.016
Keller JM, Macaulay W, Nercessian OA, Jaffe IA. New developments in ochronosis: review of the literature. Rheumatol Int. 2005;25:81-5. https://doi.org/10.1007/s00296-004-0498-1
Alibert i G, Pulignano I, Pisani D, Rocchietti M, Del Port o M, Proietta M. Bisphosphonat e treat ment in ochronotic osteoporotic patients. Clin Rheumatol. 2007;26:729-35. https://doi.org/10.1007/s10067-006-0390-3
Salazar R, Londoño J, Reyes E, Varela P, Bautista WA, Guzmán C, et al. Ocronosis: descripción de dos casos familiares, reseña histórica y revisión de la literatura. Rev Colomb Reumatol. 2011;18:304-10. https://doi.org/10.1016/S0121-8123(11)70046-9
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