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Clinical Rheumatology
Published in: Clinical Rheumatology 5/2016

01-05-2016 | Case Based Review

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review

Authors: L. Ventura-Ríos, C. Hernández-Díaz, L. Gutiérrez-Pérez, A. Bernal-González, R. Pichardo-Bahena, A. L. Cedeño-Garcidueñas, C. Pineda

Published in: Clinical Rheumatology | Issue 5/2016

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Abstract

Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid. Deposition of excess homogentisic acid in different intra- and extra-articular structures with high content of connective tissue causes brownish-black pigmentation and weakening, ultimately resulting in tissue degeneration and finally osteoarthritis. Ochronotic arthropathy is considered a rapidly progressive, disabling condition in which weight-bearing joints and the thoracolumbar spine are predominantly affected. Patients often require multiple joint replacements, such as in the case of the patient presented here. At present, there is no definitive cure for ochronosis, and management is predominantly symptomatic.
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Metadata
Title
Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review
Authors
L. Ventura-Ríos
C. Hernández-Díaz
L. Gutiérrez-Pérez
A. Bernal-González
R. Pichardo-Bahena
A. L. Cedeño-Garcidueñas
C. Pineda
Publication date
01-05-2016
Publisher
Springer London
Published in
Clinical Rheumatology / Issue 5/2016
Print ISSN: 0770-3198
Electronic ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-014-2557-7

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