Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment
Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. It is characterized by a triad of homogentisic aciduria, bl...
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Bioscientifica
2025-02-01
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| Series: | EFORT Open Reviews |
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| author | Khaled Hamed Salem Alyaa Diaa Elmoghazy |
| author_facet | Khaled Hamed Salem Alyaa Diaa Elmoghazy |
| author_sort | Khaled Hamed Salem |
| collection | DOAJ |
| description | Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of the spine and large weight-bearing joints. Several clinical manifestations were described including coronary and valvular calcification, aortic stenosis, limited chest expansion, and renal, urethral and prostate calculi as well as ocular and cutaneous pigmentation. Skeletal affection usually presents as spondylotic changes of the spine. The knee is the most common peripheral joint to be involved. Enthesopathy or tendon ruptures may occur, and reduced bone density is not unusual. A low-protein diet and ascorbic acid may reduce HGA levels. Nitisinone can safely and effectively reduce HGA production and urinary excretion. In severe ochronotic arthropathy, joint arthroplasty can offer reliable pain relief and excellent functional outcomes. Cementless fixation is successful in young patients. |
| format | Article |
| id | doaj-art-8fde01ff2b5c4a6fa4de7db4b1596e2c |
| institution | Kabale University |
| issn | 2058-5241 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Bioscientifica |
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| series | EFORT Open Reviews |
| spelling | doaj-art-8fde01ff2b5c4a6fa4de7db4b1596e2c2025-02-09T12:00:57ZengBioscientificaEFORT Open Reviews2058-52412025-02-01102758110.1530/EOR-2023-01121Ochronotic arthropathy: skeletal manifestations and orthopaedic treatmentKhaled Hamed Salem0Alyaa Diaa Elmoghazy1Department of Orthopaedic Surgery, Faculty of Medicine, Cairo University, Cairo, EgyptFaculty of Medicne, Minia University, Minia, EgyptAlkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of the spine and large weight-bearing joints. Several clinical manifestations were described including coronary and valvular calcification, aortic stenosis, limited chest expansion, and renal, urethral and prostate calculi as well as ocular and cutaneous pigmentation. Skeletal affection usually presents as spondylotic changes of the spine. The knee is the most common peripheral joint to be involved. Enthesopathy or tendon ruptures may occur, and reduced bone density is not unusual. A low-protein diet and ascorbic acid may reduce HGA levels. Nitisinone can safely and effectively reduce HGA production and urinary excretion. In severe ochronotic arthropathy, joint arthroplasty can offer reliable pain relief and excellent functional outcomes. Cementless fixation is successful in young patients.https://eor.bioscientifica.com/view/journals/eor/10/2/EOR-2023-0112.xmlochronosisochronotic arthropathyarthroplastyalkaptonuriablack joints |
| spellingShingle | Khaled Hamed Salem Alyaa Diaa Elmoghazy Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment EFORT Open Reviews ochronosis ochronotic arthropathy arthroplasty alkaptonuria black joints |
| title | Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment |
| title_full | Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment |
| title_fullStr | Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment |
| title_full_unstemmed | Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment |
| title_short | Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment |
| title_sort | ochronotic arthropathy skeletal manifestations and orthopaedic treatment |
| topic | ochronosis ochronotic arthropathy arthroplasty alkaptonuria black joints |
| url | https://eor.bioscientifica.com/view/journals/eor/10/2/EOR-2023-0112.xml |
| work_keys_str_mv | AT khaledhamedsalem ochronoticarthropathyskeletalmanifestationsandorthopaedictreatment AT alyaadiaaelmoghazy ochronoticarthropathyskeletalmanifestationsandorthopaedictreatment |