Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings
Alkaptonuria is a rare inborn error of metabolism disorder, with an incidence of one in a million births presenting with a triad of dark staining of urine, ochronosis, and Spondyloarthropathy. Till date, 1233 cases have been reported. Ochronotic arthropathy has often been a “serendipity,” with most...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Journal of Orthopaedics and Spine |
| Subjects: | |
| Online Access: | http://www.joas.org.in/article.asp?issn=2666-7150;year=2023;volume=11;issue=1;spage=35;epage=39;aulast=Kammar |
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| author | Sherashah F Kammar Adiveppa A Hosangadi Hemanth D Ramaiah |
| author_facet | Sherashah F Kammar Adiveppa A Hosangadi Hemanth D Ramaiah |
| author_sort | Sherashah F Kammar |
| collection | DOAJ |
| description | Alkaptonuria is a rare inborn error of metabolism disorder, with an incidence of one in a million births presenting with a triad of dark staining of urine, ochronosis, and Spondyloarthropathy. Till date, 1233 cases have been reported. Ochronotic arthropathy has often been a “serendipity,” with most diagnosis being made intraoperatively when the operating surgeons encountered “black” discs or “bluish-black cartilage. Spine involvement often precedes other musculoskeletal symptoms and begins after 30 years. Symptomatic treatment and arthroplasty form the mainstay of treatment as this disorder has no cure. We report a case of two brothers with a history of lumbar disc prolapse with radiculopathy, for which they underwent a surgery in their early thirties. They were asymptomatic for 6 years following the surgery before developing back stiffness and multiple large joint pains. The brothers were treated as HLA-B27 negative ankylosing spondylitis by multiple clinicians for 3 years before presenting to us with fused vertebrae, advanced arthritis of shoulder and knee, and avascular necrosis of bilateral femoral head. Alkaptonuria is a very rare disease; the symptoms of progressive low back ache/stiffness coupled with arthropathy of axial/weight bearing joints in an individual over 30 years should prompt the clinician to consider a diagnosis of alkaptonuri. Arthroplasty is the only solution to a pain-free functional life; however, it has its own complications. Hence, early diagnosis and lifestyle modifications might help delay the natural course of this debilitating disease until newer therapies emerge. |
| first_indexed | 2024-03-12T22:11:47Z |
| format | Article |
| id | doaj.art-61b3c25de8544cab985e93c165362373 |
| institution | Directory Open Access Journal |
| issn | 2666-7150 |
| language | English |
| last_indexed | 2024-03-12T22:11:47Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Orthopaedics and Spine |
| spelling | doaj.art-61b3c25de8544cab985e93c1653623732023-07-23T11:41:59ZengWolters Kluwer Medknow PublicationsJournal of Orthopaedics and Spine2666-71502023-01-01111353910.4103/JOASP.JOASP_10_23Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblingsSherashah F KammarAdiveppa A HosangadiHemanth D RamaiahAlkaptonuria is a rare inborn error of metabolism disorder, with an incidence of one in a million births presenting with a triad of dark staining of urine, ochronosis, and Spondyloarthropathy. Till date, 1233 cases have been reported. Ochronotic arthropathy has often been a “serendipity,” with most diagnosis being made intraoperatively when the operating surgeons encountered “black” discs or “bluish-black cartilage. Spine involvement often precedes other musculoskeletal symptoms and begins after 30 years. Symptomatic treatment and arthroplasty form the mainstay of treatment as this disorder has no cure. We report a case of two brothers with a history of lumbar disc prolapse with radiculopathy, for which they underwent a surgery in their early thirties. They were asymptomatic for 6 years following the surgery before developing back stiffness and multiple large joint pains. The brothers were treated as HLA-B27 negative ankylosing spondylitis by multiple clinicians for 3 years before presenting to us with fused vertebrae, advanced arthritis of shoulder and knee, and avascular necrosis of bilateral femoral head. Alkaptonuria is a very rare disease; the symptoms of progressive low back ache/stiffness coupled with arthropathy of axial/weight bearing joints in an individual over 30 years should prompt the clinician to consider a diagnosis of alkaptonuri. Arthroplasty is the only solution to a pain-free functional life; however, it has its own complications. Hence, early diagnosis and lifestyle modifications might help delay the natural course of this debilitating disease until newer therapies emerge.http://www.joas.org.in/article.asp?issn=2666-7150;year=2023;volume=11;issue=1;spage=35;epage=39;aulast=Kammaralkaptonuriahomogentisate oxidase deficiencyochronosisochronotic arthropathyspondyloarthropathy |
| spellingShingle | Sherashah F Kammar Adiveppa A Hosangadi Hemanth D Ramaiah Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings Journal of Orthopaedics and Spine alkaptonuria homogentisate oxidase deficiency ochronosis ochronotic arthropathy spondyloarthropathy |
| title | Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings |
| title_full | Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings |
| title_fullStr | Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings |
| title_full_unstemmed | Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings |
| title_short | Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings |
| title_sort | rare case alert ochronotic arthropathy and its skeletal manifestations in 2 indian siblings |
| topic | alkaptonuria homogentisate oxidase deficiency ochronosis ochronotic arthropathy spondyloarthropathy |
| url | http://www.joas.org.in/article.asp?issn=2666-7150;year=2023;volume=11;issue=1;spage=35;epage=39;aulast=Kammar |
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