Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis

Doğanavşargıl, Başak; Pehlivanoğlu, Burçin; Biçer, Elcil Kaya; Argın, Mehmet; Bingul, Kenan Baris; Sezak, Murat; Keçeci, Burçin; Çöker, Mahmut; Oztop, Fikri

doi:10.1016/j.prp.2015.03.001

Cited by 16 publications

(28 citation statements)

References 19 publications

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“…Owing to the rarity of the disease and symptoms mimicking other types of arthritis, the diagnosis of AKU is frequently not made until it is discovered intraoperatively during orthopedic surgery, and the affected joint bears the characteristic bluish-black discoloration. Histopathological findings include macroscopic brown to black coloring of the articular cartilages and synovial tissues, as well as microscopic fibrillation and eburnation (10). Darkening of the urine on oxidation or increased levels of urine HGA confirm the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Bauer

Myung

et al. 2019

Eur J Rheumatol

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Alkaptonuria (AKU) is a rare autosomal recessive disorder that results from the deficient activity of homogentisate 1,2-dioxygenase and leads to increased levels of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA). Both HGA and BQA form polymerized deposits that lead to a bluish-black discoloration of the cartilage as well as degeneration, inflammation, and calcification of the tendons, ligaments, intervertebral discs, and large joints and increased bone resorption. A brittle and fragmented cartilage forms and leads to aberrant loading of the subchondral bone. These fragments then adhere to the synovial membrane and cause fibrosis or chondromatosis, leading to ochronotic arthropathy. Ochronotic tendinopathy most commonly affects the patellar or Achilles tendon and can lead to enthesopathy or spontaneous tendon ruptures. Ochronotic pigments deposited in the bone impair the bone mineralization process and lead to osteopenia or osteoporosis. Here, we report a case of a patient with several musculoskeletal manifestations of AKU and reviewed the literature to summarize the pathophysiology, clinical characteristics, and radiologic findings of the rheumatic features of AKU. Though medical treatment options are limited, early identification of AKU can facilitate prompt surgical intervention.

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Section: Discussionmentioning

confidence: 99%

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Bauer

Myung

et al. 2019

Eur J Rheumatol

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“…With aging, complaints regarding the weightbearing joints (spine, hip, and knee) become common (1,8,9). The diagnostic triad of ochronosis consists of degenerative arthritis, ochronotic pigmentation, and urine alkalinization.…”

Section: Achilles Avulsion Calcaneus Ochronosis Alkaptonuria a B S T mentioning

confidence: 99%

“…Dietary reduction of phenylalanine and tyrosine with administration of vitamin C of 1 g/day, vitamin E, nitisinone, N-acetyl cysteine, chondroitin, and glycosaminoglycan has been recommended (12)(13)(14)(15). Nitisinone (Orfadin Ò ; Sobi, Stockholm, Sweden) inhibits 4-OH phenylpyruvate dioxygenase enzyme and prevents the synthesis of homogentisic acid (3,8,14,16,17). Physiotherapy and analgesics for symptomatic treatment have been beneficial (7).…”

Section: Achilles Avulsion Calcaneus Ochronosis Alkaptonuria a B S T mentioning

confidence: 99%

Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report

Tanoğlu

Arıcan

Özmeriç

et al. 2018

The Journal of Foot and Ankle Surgery

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Alkaptonuria is a hereditary disorder of phenylalanine and tyrosine, with an incidence of approximately 1/200,000 to 1/1,000,000. Ochronosis is the accumulation of homogentisic acid and its metabolites in connective tissues such as the tendons, cartilage, and skin. In the present case study, a 50-year-old male presented with a nontraumatic calcaneal avulsion without a previous diagnosis of ochronosis. To the best of our knowledge, little information has been reported of this pathology in the Achilles tendon and the surgical management.

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“…Doganavsargil et al. 7 found that mild to severe degenerative changes including joint space narrowing, subchondral sclerosis, and peripheral osteophytes were observed on radiographs of patients with ochronotic arthropathy of the knee.…”

Section: Preoperative Diagnosis and Imagingmentioning

confidence: 99%

“…The clinical presentation of ochronotic arthropathy of the knee can include pain and limited range of motion. 7 Synovial effusion owing to inflammation of the articular cartilage may also be present and has been found in approximately 50% of patients with ochronotic arthropathy. 8 However, given the non–disease-specific nature of these radiologic and clinical findings, the diagnosis of ochronotic arthropathy is ultimately confirmed by pathology report findings.…”

Section: Preoperative Diagnosis and Imagingmentioning

confidence: 99%

Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy

Stetson

Morgan

Hung

et al. 2018

Arthroscopy Techniques

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The surgical treatment of ochronotic arthropathy remains unclear. Although there is no absolute cure for ochronotic arthropathy, current management typically begins with conservative treatment. Total joint replacement may eventually be necessary for joints that become severely degenerative. Ochronotic arthropathy is present in patients with alkaptonuric ochronosis, which is characterized by dark pigmentation of connective tissue and black discoloration of urine owing to a deficiency of homogentisic acid oxidase. As a result, soft tissues become brittle and subsequently more susceptible to mechanical stress, resulting in articular cartilage degeneration. The diagnosis of ochronotic arthropathy of the knee often occurs intraoperatively after discovery of darkened synovium and black deposits during arthroscopy. The purpose of this article is to describe arthroscopic debridement as an effective treatment option and diagnostic tool for ochronotic arthropathy of the knee after failure of conservative measures.

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Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis

Cited by 16 publications

References 19 publications

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report

Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy

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