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Family history of ochronotic arthropathy

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Abstract

Alkaptonuria is a rare autosomal-recessive disorder that produces accumulation of homogentisic acid in body fluids. The accumulation in collagen tissues, mainly in the joint cartilage, produces ochronotic arthropathy. We report two clinical cases of one brother and sister with alkaptonuria and ochronotic arthropathy diagnosed in old age. In the first case, the patient is diagnosed by musculoskeletal involvement with long-term low back pain with other associated manifestations that made this pathology suspected. In the second case, the patient comes due to osteoporosis and other associated fractures and with the family history and the rest of the clinic, the appropriate complementary tests were performed and the diagnosis is established. It is unknown if there is consanguinity in these patients between parents or ancestors. It is an infrequent pathology that is often diagnosed intraoperatively. Despite the poor efficacy of medical treatment, it would be advisable to make an early diagnosis to avoid accumulation of the pigment and accelerated joint destruction and deposition in other locations. Owing to its prevalence, it is difficult to find a significant number of patients to search for new treatments that are intended to correct the enzyme deficit and not only to modify the elimination.

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Acknowledgements

Dr. M. Aguilar González (Hospital Universitario La Fe, Valencia, Spain) for image editing. E. Aristoy Gómez-Lechón (Hospital Universitario La Fe, Valencia, Spain) for English editing.

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Authors and Affiliations

  1. Department of Rheumatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain

    L. Gómez-Lechón Quirós, C. Hidalgo Calleja, M. E. Acosta de la Vega, O. Compán Fernández, S. Pastor Navarro & C. Montilla Morales

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  1. L. Gómez-Lechón Quirós
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  3. M. E. Acosta de la Vega
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Contributions

All the authors have participated in the bibliographic search and preparation of the following manuscript; LGQ: bibliographic search, case acquisition and writing—original draft; CHC: bibliographic search, review and editing; MEAV: bibliographic search and writing; OCF: bibliographic search and imaging; SPN: bibliographic search; CMM: editing, supervision, review.

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Correspondence to L. Gómez-Lechón Quirós.

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All mandatory laboratory health and safety procedures have been complied with in the course of conducting any experimental work reported in the manuscript. We declare that this manuscript is original, has not been published before and is not currently being considered for publication elsewhere. As Corresponding Author, I confirm that the manuscript has been read and approved for submission by all the named authors with subsequent modifications. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work. The publication is approved following the guidelines of the ethical committee of the University Hospital of Salamanca (CEIM Hospital Universitario de Salamanca. Ref: E.O. 19/743 EPA-OD 19 10/02/20).

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Gómez-Lechón Quirós, L., Hidalgo Calleja, C., Acosta de la Vega, M.E. et al. Family history of ochronotic arthropathy. Rheumatol Int 41, 1869–1874 (2021). https://doi.org/10.1007/s00296-020-04640-2

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