Case Report: Ochronotic Arthropathy

Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory...

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Main Authors: Ülkü Dönmez, Ece Cinar, Cihat Ozturk, Simin Hepgüler
Format: Article
Language:English
Published: Galenos Yayinevi 2021-08-01
Series:Forbes Tıp Dergisi
Subjects:
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=forbes&un=FJM-32932
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author Ülkü Dönmez
Ece Cinar
Cihat Ozturk
Simin Hepgüler
author_facet Ülkü Dönmez
Ece Cinar
Cihat Ozturk
Simin Hepgüler
author_sort Ülkü Dönmez
collection DOAJ
description Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory back pain. Although axial involvement radiologically resembles ankylosing spondylitis (AS), it is differentiated by the absence of typical syndesmophytes, facet involvement, sacroiliac erosion and fusion.Although there is no effective treatment for ochronosis disease; our patient was given a protein-poor diet, vitamin C supplementation (100 mg/kg/day) and analgesic treatment for symptoms recommended in the literature; and a reduction in joint complaints was observed. In this case, the aim is to diagnose the rare ochronotic arthropathy followed with the diagnosis of AS and to show that both axial and peripheral joint involvement can be together in this disease.
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spelling doaj.art-9c92f617ccce4364a10902c458008b082023-08-01T10:47:26ZengGalenos YayineviForbes Tıp Dergisi2757-52412021-08-012213613910.5222/forbes.2021.32932FJM-32932Case Report: Ochronotic ArthropathyÜlkü Dönmez0Ece Cinar1Cihat Ozturk2Simin Hepgüler3Buca Seyfi Demirsoy Training And Research Hospital Physical Medicine And Rehabilitation,izmirEge University Medical School Physical Medicine And Rehabilitation, İzmirEge University Medical School Physical Medicine And Rehabilitation, İzmirEge University Medical School Physical Medicine And Rehabilitation, İzmirOchronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory back pain. Although axial involvement radiologically resembles ankylosing spondylitis (AS), it is differentiated by the absence of typical syndesmophytes, facet involvement, sacroiliac erosion and fusion.Although there is no effective treatment for ochronosis disease; our patient was given a protein-poor diet, vitamin C supplementation (100 mg/kg/day) and analgesic treatment for symptoms recommended in the literature; and a reduction in joint complaints was observed. In this case, the aim is to diagnose the rare ochronotic arthropathy followed with the diagnosis of AS and to show that both axial and peripheral joint involvement can be together in this disease.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=forbes&un=FJM-32932ochronosisarthropathylow back pain
spellingShingle Ülkü Dönmez
Ece Cinar
Cihat Ozturk
Simin Hepgüler
Case Report: Ochronotic Arthropathy
Forbes Tıp Dergisi
ochronosis
arthropathy
low back pain
title Case Report: Ochronotic Arthropathy
title_full Case Report: Ochronotic Arthropathy
title_fullStr Case Report: Ochronotic Arthropathy
title_full_unstemmed Case Report: Ochronotic Arthropathy
title_short Case Report: Ochronotic Arthropathy
title_sort case report ochronotic arthropathy
topic ochronosis
arthropathy
low back pain
url https://jag.journalagent.com/z4/download_fulltext.asp?pdir=forbes&un=FJM-32932
work_keys_str_mv AT ulkudonmez casereportochronoticarthropathy
AT ececinar casereportochronoticarthropathy
AT cihatozturk casereportochronoticarthropathy
AT siminhepguler casereportochronoticarthropathy