ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS
Main Article Content
Keywords
alkaptonuria, ochronotic arthopathy, total knee arthroplasty, total hip arthroplasty
Abstract
Ochronotic degenerative arthropathy occurs in patients with alkaptonuria. Alkaptonuria disorder is an extremely rare disease characterized by black pigmentation of various tissues (e.g., cartilage and connective tissue). Ochronotic arthropathy is a disabling disease that primarily affects the large joints. Like other metabolic diseases that involve the musculoskeletal system, care must be taken with regard to the quality of the affected bones, tendons and ligaments, and therefore the stability and survival of joint prosthesis. The following is a report of a 66-year-old man affected by several musculoskeletal manifestations of alkaptonuria with severe joints disruption, who was successfully treated with total left hip and total right knee replacements. Surgical, anesthesiological and postoperative management of these patients may require more vigilance due to the associated comorbidities of this disorder.
References
1-Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA. Three-generational alkaptonuria in a non-consanguineous family. J Inherit Metab Dis. 2008; 31 Suppl 2-30
2- Lal M, Thakur M, Kashyap S. Alkaptonuric ochronosis. Orthopedics. 2014;37:e1141-e1149.
3- Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, et al. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet. 2000; 67(5): 1333-9
4- Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med. 2002; 347(26): 2111-21
5- Albers SE, Brozena SJ, Glass LF, Fenske NA. Alkaptonuria and ochronosis: case report and review. J Am Acad Dermatol. 1992; 27(4): 609-14
6- Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, et al. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum. 2004; 33(4): 239-48
7- Gaines JJ. The pathology of alkaptonuric ochronosis. Hum Pathol. 1989; 20(1): 40-6
8- Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab. 2002; 77(1-2): 136-42
9- Kobak AC, Oder G, Kobak S, Argin M, Inal V. Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. J Clin Rheumatol. 2005; 11(6): 323-5
10- Kumar RVM, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg (British volume). 2003;85(6):883–6.
11- Pellacci F, Piancastelli M, Zmerly H. Dalla Condropatia all’Artrosi. Giornale Italiano di Ortopedia e Traumatologia. 2001;27:331–4.
12- Aydogdu S, Cullu E, Ozsoy MH, Sur H. Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up. J Arthroplasty. 2000; 15(4): 539-43
13- 21- Spencer JM, Gibbons CL, Sharp RJ, Carr AJ, Athanasou NA. Arthroplasty for ochronotic arthritis: no failure of 11 replacements in 3 patients followed 6-12 years. Acta Orthop Scand. 2004; 75(3): 355-8
14-Sahoo MM, Mahapatra SK, Sethi GC, Dash SK. Patellar ligament rupture during total knee arthroplasty in an ochronotic patient. Acta Orthop Traumatol Turc. 2014; 48(3): 367-70
15-Ozmanevra R, Guran O, Karatosun V, Gunal I. Total knee arthroplasty in ochronosis: a case report and critical review of the literature. Eklem Hastalik Cerrahisi. 2013; 24(3): 169-72
16-Siavashi B, Zehtab MJ, Pendar E. Ochronosis of hip joint; a case report. Cases J. 2009; 2: 9337
17- Patel VG. Total knee arthroplasty in ochronosis. Arthroplasty Today. 2015 September; 1(3): 77–80.
18- Adamopoulos AP, Gavras M, Soukakos KP. Total knee and hip reconstruction in male patient with alkaptonuria with 3 years of follow up. Case report and review of the literature. MOJ Orthop Rheumatol. 2016;4(3):00137. doi: 10, 15406/mojor.2016.04.00137
19- Wejjakul W, Pongkunakorn A. Total knee arthroplasty in alkaptonuric ochronosis: The first case report in Thailand and literature review. Siriraj Med J. 2016;68:305–9.
20- Rana AQ, Saeed U, Abdullah I. Alkaptonuria, more than just a mere disease. J Neurosci Rural Pract. 2015;6(2):257.
21-Araki K, Sudo A, Hasegawa M, Uchida A. Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties. J Clin Rheumatol. 2009; 15(3): 138-40
2- Lal M, Thakur M, Kashyap S. Alkaptonuric ochronosis. Orthopedics. 2014;37:e1141-e1149.
3- Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, et al. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet. 2000; 67(5): 1333-9
4- Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med. 2002; 347(26): 2111-21
5- Albers SE, Brozena SJ, Glass LF, Fenske NA. Alkaptonuria and ochronosis: case report and review. J Am Acad Dermatol. 1992; 27(4): 609-14
6- Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, et al. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum. 2004; 33(4): 239-48
7- Gaines JJ. The pathology of alkaptonuric ochronosis. Hum Pathol. 1989; 20(1): 40-6
8- Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab. 2002; 77(1-2): 136-42
9- Kobak AC, Oder G, Kobak S, Argin M, Inal V. Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. J Clin Rheumatol. 2005; 11(6): 323-5
10- Kumar RVM, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg (British volume). 2003;85(6):883–6.
11- Pellacci F, Piancastelli M, Zmerly H. Dalla Condropatia all’Artrosi. Giornale Italiano di Ortopedia e Traumatologia. 2001;27:331–4.
12- Aydogdu S, Cullu E, Ozsoy MH, Sur H. Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up. J Arthroplasty. 2000; 15(4): 539-43
13- 21- Spencer JM, Gibbons CL, Sharp RJ, Carr AJ, Athanasou NA. Arthroplasty for ochronotic arthritis: no failure of 11 replacements in 3 patients followed 6-12 years. Acta Orthop Scand. 2004; 75(3): 355-8
14-Sahoo MM, Mahapatra SK, Sethi GC, Dash SK. Patellar ligament rupture during total knee arthroplasty in an ochronotic patient. Acta Orthop Traumatol Turc. 2014; 48(3): 367-70
15-Ozmanevra R, Guran O, Karatosun V, Gunal I. Total knee arthroplasty in ochronosis: a case report and critical review of the literature. Eklem Hastalik Cerrahisi. 2013; 24(3): 169-72
16-Siavashi B, Zehtab MJ, Pendar E. Ochronosis of hip joint; a case report. Cases J. 2009; 2: 9337
17- Patel VG. Total knee arthroplasty in ochronosis. Arthroplasty Today. 2015 September; 1(3): 77–80.
18- Adamopoulos AP, Gavras M, Soukakos KP. Total knee and hip reconstruction in male patient with alkaptonuria with 3 years of follow up. Case report and review of the literature. MOJ Orthop Rheumatol. 2016;4(3):00137. doi: 10, 15406/mojor.2016.04.00137
19- Wejjakul W, Pongkunakorn A. Total knee arthroplasty in alkaptonuric ochronosis: The first case report in Thailand and literature review. Siriraj Med J. 2016;68:305–9.
20- Rana AQ, Saeed U, Abdullah I. Alkaptonuria, more than just a mere disease. J Neurosci Rural Pract. 2015;6(2):257.
21-Araki K, Sudo A, Hasegawa M, Uchida A. Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties. J Clin Rheumatol. 2009; 15(3): 138-40
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Published
Jul 23, 2019
Article Details
How to Cite
Zmerly, H., Moscato, M., & Gregori, V. D. (2019). ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS. Journal of Population Therapeutics and Clinical Pharmacology, 26(2), e20-e24. https://doi.org/10.15586/jptcp.v26i2.624
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Author Biography
Hassan Zmerly, UCM Malta, Ludes Lugano Campus, Lugano, Switzerland.
Department of Orthopaedic Surgery