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

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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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Disclosures

All authors declare no conflicts of interest.

Ventura-Ríos L. None.

Hernández-Díaz C. None.

Gutiérrez-Pérez L. None.

Bernal-González A. None.

Pichardo-Bahena R. None.

Cedeño-Garcidueñas A. None.

Pineda C. None.

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Authors and Affiliations

  1. Musculoskeletal Ultrasound Laboratory, Instituto Nacional de Rehabilitación, Calzada México–Xochimilco 289, Col. Arenal de Guadalupe, Del. Tlalpan, 14389, México, D.F., Mexico

    L. Ventura-Ríos, C. Hernández-Díaz, A. Bernal-González & C. Pineda

  2. Musculoskeletal Ultrasound Diploma Course, Instituto Nacional de Rehabilitación, Mexico City, Mexico

    L. Gutiérrez-Pérez

  3. Anatomical Pathology Service, Instituto Nacional de Rehabilitación, Mexico City, Mexico

    R. Pichardo-Bahena & A. L. Cedeño-Garcidueñas

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  1. L. Ventura-Ríos
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  2. C. Hernández-Díaz
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  3. L. Gutiérrez-Pérez
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  4. A. Bernal-González
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Correspondence to C. Pineda.

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Ventura-Ríos, L., Hernández-Díaz, C., Gutiérrez-Pérez, L. et al. Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review. Clin Rheumatol 35, 1389–1395 (2016). https://doi.org/10.1007/s10067-014-2557-7

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  • DOI: https://doi.org/10.1007/s10067-014-2557-7

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