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A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review

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Abstract

Blau syndrome is a rare autosomal dominant monogenic auto-inflammatory disorder characterized by triad of granulomatous polyarthritis, dermatitis, and uveitis. However, it may be difficult to recognize this syndrome in the absence of all three characteristic clinical manifestations. A 3-year-old girl presented with early onset symmetric polyarthritis and developed granulomatous uveitis at 13 years of age. However, Blau syndrome was suspected at 21 years of age when she was diagnosed to have disseminated granulomas in liver and kidneys. Diagnosis of Blau syndrome was confirmed by finding a mutation in NOD2 gene (p.Arg334Gln; FP2678). She was initiated on adalimumab therapy and she showed good response to this treatment. We did a literature search to find out all reported cases of Blau syndrome with disseminated granulomatous inflammation and all cases of Blau syndrome that were treated with adalimumab therapy. Seventeen patients with Blau syndrome have been reported to have granulomas at unusual locations (liver; kidneys; lungs; salivary glands; intestine; and lymph nodes). Adalimumab has been reported to be used in 33 patients with Blau syndrome. The indication to initiate adalimumab in large majority of these patients was persistence of uveitis. A possibility of Blau syndrome should be considered in all children presenting with early onset arthritis (especially with the presence of boggy swelling) and granulomatous uveitis. Granulomas in the liver and kidney are uncommon disease manifestations. Adalimumab may be an effective treatment for patients with Blau syndrome who are resistant to other forms of therapy.

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Authors and Affiliations

  1. Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India

    Ankur Kumar Jindal, Rakesh Kumar Pilania, Deepti Suri, Anju Gupta & Surjit Singh

  2. Istituto Giannina Gaslini, Clinica Pediatrica e Reumatologia, Genoa, Italy

    Marco Gattorno

  3. UOC Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

    Isabella Ceccherini

  4. Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Nitin Kumar & Rima Bansal

  5. Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Ritambhra Nada

Authors
  1. Ankur Kumar Jindal
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  2. Rakesh Kumar Pilania
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  3. Deepti Suri
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  4. Anju Gupta
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  5. Marco Gattorno
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  7. Nitin Kumar
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  9. Ritambhra Nada
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  10. Surjit Singh
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Contributions

AKJ conception of study design, writing and editing of manuscript, patient management, data collection, review of literature, revision of manuscript, and final approval. RKP writing and editing of manuscript, data collection, review of literature, and revision of manuscript. DS/AG patient management, editing of manuscript, data collection, and final approval. MG/IC genetic study of patient, editing of manuscript, and data collection. NK/RB patient management, data collection, and editing of manuscript. RN histopathology studies in patient, data collection, and editing of manuscript. SS conception of study design, editing of manuscript, patient management, data collection, revision of manuscript, and final approval. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

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Correspondence to Ankur Kumar Jindal.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. An informed consent was obtained from patient for publication of this case and images.

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Jindal, A.K., Pilania, R.K., Suri, D. et al. A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatol Int 41, 173–181 (2021). https://doi.org/10.1007/s00296-019-04316-6

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  • DOI: https://doi.org/10.1007/s00296-019-04316-6

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