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Challenges in diagnosis of limited granulomatosis with polyangiitis

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Abstract

Granulomatosis with polyangiitis (GPA) is an orphan disease with multifaceted clinical presentations and delayed diagnosis. Given the risks of delayed diagnosis and treatment, improving clinicians’ awareness of atypical course of this disease is critically important. The aim of this report is to analyze a case of delayed diagnosis of GPA in view of similar publications. We analyzed articles retrieved from Scopus and MEDLINE/PubMed. The following keywords were used: “granulomatosis with polyangiitis”, “Wegener granulomatosis”, and “diagnostic errors”. All case studies that fulfilled the Chapel Hill Consensus Conference and the American College of Rheumatology GPA criteria were retrieved. We report a 71-year-old female patient with a facial defect in the nasal region, nasal congestion, and serosanguineous discharge. Her final diagnosis of GPA was reached after a series of incorrect diagnoses in the past 40 years. A deforming facial lesion developed during this period of uncertainty and absence of appropriate treatment. This patient presented with atypical features of laboratory and instrumental examinations. Anti-neutrophil cytoplasmic antibodies (ANCA) were negative, while rheumatoid factor (RF; 46.3 IU/mL) and anti-citrullinated protein antibody (ACPA; 25.6 IU/mL) were elevated. The histological analysis of the nasal mucous membrane specimen did not indicate definite signs of vasculitis. However, it revealed a granuloma with aggregation of macrophages and massive infiltration of lymphocytes, ruling out previous diagnosis of carcinoma. We analyzed delayed diagnosis of GPA in our patient in the context of 12 previously reported similar cases of limited form of GPA. We emphasize the importance of histological examination for differential diagnosis of GPA.

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Funding

No funding was received for this study.

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Authors and Affiliations

  1. Department of Internal Medicine #2, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine

    Olena Zimba

  2. Academician Ye. M. Neiko Department of Internal Medicine #1, Clinical Immunology and Allergology, Ivano-Frankivsk National Medical University, Halytska str. 2, Ivano-Frankivsk, 76000, Ukraine

    Bohdana Doskaliuk & Roman Yatsyshyn

  3. Institute of the Pathology and Cytology, Clinic of Medical School of Brandenburg, Neuruppin, Germany

    Mykola Bahrii

  4. ENT Department, First Clinical Hospital, Lviv, Ukraine

    Marta Hrytsevych

Authors
  1. Olena Zimba
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  2. Bohdana Doskaliuk
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  3. Roman Yatsyshyn
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  4. Mykola Bahrii
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  5. Marta Hrytsevych
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Contributions

OZ: supervised the patient management and took part in initial version of the manuscript writing and revision. BD: collected data and took part in initial version of the manuscript writing and revision. RY: interpreted the obtained data, edited manuscript. MB: performed pathomorphological examination, interpreted the data, and revised the manuscript. MH: took part in the patient management and manuscript writing. All authors approved the final manuscript for publication.

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Correspondence to Bohdana Doskaliuk.

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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.

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Zimba, O., Doskaliuk, B., Yatsyshyn, R. et al. Challenges in diagnosis of limited granulomatosis with polyangiitis. Rheumatol Int 41, 1337–1345 (2021). https://doi.org/10.1007/s00296-021-04858-8

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