Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report

ABSTRACT

Purpose

To present a novel association of multiple autoimmune syndrome (MAS) in a patient with sclerouveitis and alkaptonuria.

Case report

A 68-year-old female with alkaptonuria, Hashimoto’s thyroiditis, and familial autoimmunity presented with decreased VA, red eye, foreign body sensation, and ocular pain. Ophthalmological examination: OD conjunctival hyperemia, ochronosis, a reddish-violet scleral nodule, keratic precipitates, 2+ cells in the anterior chamber, 0.5+ vitreous cells, and mild vitreous haze. The patient was diagnosed with anterior uveitis and anterior nodular scleritis. Due to the associated sicca symptoms, a salivary gland biopsy was ordered, confirming Sjögren’s syndrome. Then, MAS was diagnosed, and immunomodulatory medications were started; however, as she was refractory to more than two of them, it was suggested to start biological treatment.

Conclusion

We present a novel MAS-type 2 pattern consisting of Hashimoto’s thyroiditis, sclerouveitis, and Sjögren’s syndrome. Its diagnosis and management represent a challenge, so a multidisciplinary approach should be provided.

KEYWORDS:

• Alkaptonuria
• multiple autoimmune syndrome
• polyautoimmunity
• scleritis
• sclerouveitis
• uveitis

Abbreviations

Table

Acknowledgments

We thank Dr. María Alejandra Maldonado (R.I.P.) and Dr. Juliana Reyes-Guanes for their help in the initial conceptualization of this manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Authors’ contributions

All authors attest that they meet the current ICMJE criteria for authorship.

WRC and CCG: Contributed to conception or design, contributed to acquisition, analysis, or interpretation, wrote the manuscript, prepared the figures, and gave final approval.

MCSC: Contributed to conception or design, drafted the manuscript, and gave final approval.

ADLT: Received and evaluated the patient in her consultation, contributed to conception or design, critically revised the manuscript, and gave final approval.

Availability of data and materials

The anonymized clinical data used during the current study are available from the corresponding author on reasonable request.

Ethics approval and consent to participate

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for images and the clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due effort will be made to conceal her identity.

Consent for publication

The authors certify that they have obtained all appropriate patient consent forms.

Additional information

Funding

The author(s) received no financial support for this article’s research, authorship, and/or publication.