Alkaptonuria and Ochronotic Arthropathy: The Path to Pain-Free Mobility
-
Mohammad Poursalehian
,
Mohammadreza Barzegar
,
Mohammadreza Razzaghof
,
Seyed Mohammad Javad Mortazavi
Abstract
This article discusses a case of ochronotic arthropathy, a manifestation of alkaptonuria. Alkaptonuria is characterized by the accumulation of homogentisic acid [HGA] in tissues, leading to a distinctive blue-black pigmentation and early joint degeneration. A 68-year-old female patient, with a history of alkaptonuria, presented with progressive hip pain and was eventually treated with an elective total hip replacement. Due to vertebral calcifications, the operation was performed under general anesthesia. Pre- and post-operative care was guided by the patient’s comorbidities and potential complications related to alkaptonuria, including potential cardiac and respiratory issues. Following surgery, the patient exhibited significant improvements in hip joint functionality. The paper also discusses the challenges in diagnosing alkaptonuria, the absence of definitive treatment, and the potential of dietary restrictions and symptomatic treatments. Moreover, it addresses surgical considerations for ochronotic arthropathy and emphasizes the role of regular calcium and vitamin D intake in maintaining bone quality. The success of the hip replacement surgery in this case suggests a potential intervention for managing ochronotic arthropathy in alkaptonuria patients.
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[2] 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. https://doi. org/10.1080/00016470410001321
[3] Acar MA, Erkocak OF, Aydin BK, Altan E, Senaran H, Elmadağ NM. Patients with black hip and black knee due to ochronotic arthropathy: case report and review of literature. Oman Med J. 2013;28(6):448-9. https://doi.org/10.5001/omj.2013.124
[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. https://doi.org/10.1056/ NEJMoa021736
[5] Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis. 2013;1(1):e27475. https://doi.org/10.4161/rdis.27475
[6] Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol. 2013;66(5):367-73. https://doi. org/10.1136/jclinpath-2012-200877
[7] Perry MB, Suwannarat P, Furst GP, Gahl WA, Gerber LH. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol. 2006;33(11):2280-5.
[8] Ranganath LR, Cox TF. Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis. 2011;34(6):1141-51. https://doi.org/10.1007/s10545- 011-9374-9
[9] Fernández-Cañón JM, Granadino B, De Bernabé DBV, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet. 1996;14(1):19-24. https://doi. org/10.1038/ng0996-19
[10] Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br. 2003;85(6):883- 6. https://doi.org/10.1302/0301-620X.85B6.13662
[11] Morava E, Kosztolányi G, Engelke UFH, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem. 2003;40(1):108-11.https://doi.org/10.1258 /000456303321016268
[12] Suwannarat P, O’Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, et al. Use of nitisinone in patients with alkaptonuria. Metab Clin Exp. 2005;54(6):719-28. https://doi. org/10.1016/j.metabol.2004.12.017
[13] Mazoochy H, Razi M. Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips. Arch Bone Jt Surg. 2018;6(6):577-81.
[14] Pachore JA, Shah VI, Upadhyay S, Shah K, Sheth A, Kshatriya A. Primary hip arthroplasty for the treatment of alkaptonuric hip arthritis: 3- to 24-year follow-ups. Arthroplasty Today. 2019;1(1):8. https://doi.org/10.1186/s42836-019-0010-8
[15] Cebesoy O, Isik M, Subasi M, Kaya A, Bilgin F, Kaya O. Total hip replacement for an ochronotic patient: A technical trick. Am J Case Rep. 2014;15:27-30. https://doi.org/10.12659/ AJCR.890008
[16] 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. https:// doi.org/10.1097/RHU.0b013e31819e6b41
[17] Siavashi B, Zehtab MJ, Pendar E. Ochronosis of hip joint; a case report. Cases J. 2009;2:9337. https://doi.org/10.1186/1757- 1626-2-9337
[18] Fernando OSF, Supreeth N, David GD, Borja L, Ricardo L. An Unusual Case of Bilateral Ochronotic Arthropathy of the Hip Successfully Managed by a Staged Bilateral Total Hip Replacement- An Insight with a Surgical Note. J Orthop Case Rep. 2018;8(4):11-4.
[19] Kitahara Y, Kaku N, Tagomori H, Tsumura H. Alkaptonuria with rapidly destructive arthropathy of the hip: A case report and literature review. Acta Orthop Traumatol Turc. 2021;55(6):563- 8. https://doi.org/10.5152/j.aott.2021.21205
[20] Meschini C, Cauteruccio M, Oliva MS, Sircana G, Vitiello R, Rovere G, et al. Hip and knee replacement in patients with ochronosis: Clinical experience and literature review. Orthop Rev (Pavia). 2020;12(Suppl 1):8687. https://doi.org/10.4081/ or.2020.8687
[21] Al-Ajlouni JM, Alisi MS, Yasin MS, Khanfar A, Hamdan M, Halaweh AA, et al. Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria. Arthroplast Today. 2020;6(4):689-93. https://doi.org/10.1016/j. artd.2020.07.037
[22] Gowda N, Kumar MJ, Kumar AK. Black hip: a rare case treated by total hip replacement. Ann Saudi Med. 2013;33(4):368-71. https://doi.org/10.5144/0256-4947.2013.368
[2] 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. https://doi. org/10.1080/00016470410001321
[3] Acar MA, Erkocak OF, Aydin BK, Altan E, Senaran H, Elmadağ NM. Patients with black hip and black knee due to ochronotic arthropathy: case report and review of literature. Oman Med J. 2013;28(6):448-9. https://doi.org/10.5001/omj.2013.124
[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. https://doi.org/10.1056/ NEJMoa021736
[5] Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis. 2013;1(1):e27475. https://doi.org/10.4161/rdis.27475
[6] Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol. 2013;66(5):367-73. https://doi. org/10.1136/jclinpath-2012-200877
[7] Perry MB, Suwannarat P, Furst GP, Gahl WA, Gerber LH. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol. 2006;33(11):2280-5.
[8] Ranganath LR, Cox TF. Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis. 2011;34(6):1141-51. https://doi.org/10.1007/s10545- 011-9374-9
[9] Fernández-Cañón JM, Granadino B, De Bernabé DBV, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet. 1996;14(1):19-24. https://doi. org/10.1038/ng0996-19
[10] Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br. 2003;85(6):883- 6. https://doi.org/10.1302/0301-620X.85B6.13662
[11] Morava E, Kosztolányi G, Engelke UFH, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem. 2003;40(1):108-11.https://doi.org/10.1258 /000456303321016268
[12] Suwannarat P, O’Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, et al. Use of nitisinone in patients with alkaptonuria. Metab Clin Exp. 2005;54(6):719-28. https://doi. org/10.1016/j.metabol.2004.12.017
[13] Mazoochy H, Razi M. Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips. Arch Bone Jt Surg. 2018;6(6):577-81.
[14] Pachore JA, Shah VI, Upadhyay S, Shah K, Sheth A, Kshatriya A. Primary hip arthroplasty for the treatment of alkaptonuric hip arthritis: 3- to 24-year follow-ups. Arthroplasty Today. 2019;1(1):8. https://doi.org/10.1186/s42836-019-0010-8
[15] Cebesoy O, Isik M, Subasi M, Kaya A, Bilgin F, Kaya O. Total hip replacement for an ochronotic patient: A technical trick. Am J Case Rep. 2014;15:27-30. https://doi.org/10.12659/ AJCR.890008
[16] 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. https:// doi.org/10.1097/RHU.0b013e31819e6b41
[17] Siavashi B, Zehtab MJ, Pendar E. Ochronosis of hip joint; a case report. Cases J. 2009;2:9337. https://doi.org/10.1186/1757- 1626-2-9337
[18] Fernando OSF, Supreeth N, David GD, Borja L, Ricardo L. An Unusual Case of Bilateral Ochronotic Arthropathy of the Hip Successfully Managed by a Staged Bilateral Total Hip Replacement- An Insight with a Surgical Note. J Orthop Case Rep. 2018;8(4):11-4.
[19] Kitahara Y, Kaku N, Tagomori H, Tsumura H. Alkaptonuria with rapidly destructive arthropathy of the hip: A case report and literature review. Acta Orthop Traumatol Turc. 2021;55(6):563- 8. https://doi.org/10.5152/j.aott.2021.21205
[20] Meschini C, Cauteruccio M, Oliva MS, Sircana G, Vitiello R, Rovere G, et al. Hip and knee replacement in patients with ochronosis: Clinical experience and literature review. Orthop Rev (Pavia). 2020;12(Suppl 1):8687. https://doi.org/10.4081/ or.2020.8687
[21] Al-Ajlouni JM, Alisi MS, Yasin MS, Khanfar A, Hamdan M, Halaweh AA, et al. Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria. Arthroplast Today. 2020;6(4):689-93. https://doi.org/10.1016/j. artd.2020.07.037
[22] Gowda N, Kumar MJ, Kumar AK. Black hip: a rare case treated by total hip replacement. Ann Saudi Med. 2013;33(4):368-71. https://doi.org/10.5144/0256-4947.2013.368
| Files | ||
| Issue | Vol 8 No 6 (2023): November-December | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v8i6.16231 | |
| Keywords | ||
| Alkaptonuria Ochronotic Arthropath Homogentisic acid Total hip replacement Orthopedic surgery | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Poursalehian M, Barzegar M, Razzaghof M, Mortazavi SMJ. Alkaptonuria and Ochronotic Arthropathy: The Path to Pain-Free Mobility. CRCP. 2024;8(6):238-242.
