Philipp S Fuchs1, Jonas Lötscher2, Caroline M Berkemeier3, Julia R Hirsiger4, Adhideb Ghosh5,6, Quan-Zhen Li7, Nikolaus Deigendesch8, Emanuel Christ9, Alexander A Navarini10, Mike Recher11, Thomas Daikeler12, Ingmar A F M Heijnen3, Christoph T Berger1,4. 1. Clinical Immunology, Medical Outpatient Unit, Department of Internal Medicine, University Hospital Basel, Basel, Switzerland. 2. Immunobiology Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland. 3. Medical Immunology, Laboratory Medicine, University Hospital Basel, Basel, Switzerland. 4. Translational Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland. 5. Faculty of Medicine, University of Zurich, Zurich, Switzerland. 6. Competence Center Personalized Medicine University of Zurich, Swiss Federal Institute of Technology (ETH), Zurich, Switzerland. 7. Department of Immunology/Internal Medicine and IIMT Microarray Core Facility, University of Texas Southwestern Medical Center, Dallas, TX, United States. 8. Institute of Pathology, University Hospital Basel, Basel, Switzerland. 9. Centre for Neuroendocrine and Endocrine Tumours, University Hospital Basel, Basel, Switzerland. 10. Department of Dermatology, University Hospital of Basel, Basel, Switzerland. 11. Immunodeficiency Clinic and Laboratory, Departments of Internal Medicine and Biomedicine, University Hospital Basel, Basel, Switzerland. 12. Rheumatology Clinic, University Hospital Basel, Basel, Switzerland.
Abstract
Background: ANCA-associated vasculitis (AAV) and Sjögren's syndrome (SS) are uncommon autoimmune diseases. The co-occurrence in the same patient has been rarely described. Acromegaly has been associated with autoimmune thyroiditis, but the prevalence of other autoimmune disorders such as AAV and SS has not been evaluated in acromegaly. Methods: Characterization of a patient with acromegaly and two rare autoimmune diseases-SS and AAV (microscopic polyangiitis (MPA))-by autoantibody-array and whole exome sequencing (WES). Single-center retrospective review of medical records of acromegaly patients to explore the prevalence of diagnosed autoimmune diseases. Results: We report a Caucasian woman in her 50's with a serologically (anti-SSA/Ro, anti-MPO-ANCA antibodies) and histologically confirmed diagnosis of symptomatic SS and MPA. SS with MPO-ANCA positivity preceded MPA. An exploratory autoantigen array detected a broad spectrum of autoantibodies. WES revealed heterozygous carrier status of the PTPN22 mutation R620W, which is associated with an increased risk for autoimmunity. A similar combination of positive anti-SSA/Ro autoantibodies and ANCA was only present in 5/1184 (0.42%) other patients tested for both antibodies in our clinic over six years. Amongst 85 acromegaly patients seen at our clinic in a 20-year period, 12% had a clinically relevant associated immunological disease. Conclusion: We present a rare case of SS and AAV in a patient with acromegaly and multiple autoantibody specificities. Patients with SS and ANCA should be closely monitored for the development of (subclinical) AAV. Whether acromegaly represents a risk for autoimmunity should be further investigated in prospective acromegaly cohorts.
Background: ANCA-associated vasculitis (AAV) and Sjögren's syndrome (SS) are uncommon autoimmune diseases. The co-occurrence in the same patient has been rarely described. Acromegaly has been associated with autoimmune thyroiditis, but the prevalence of other autoimmune disorders such as AAV and SS has not been evaluated in acromegaly. Methods: Characterization of a patient with acromegaly and two rare autoimmune diseases-SS and AAV (microscopic polyangiitis (MPA))-by autoantibody-array and whole exome sequencing (WES). Single-center retrospective review of medical records of acromegalypatients to explore the prevalence of diagnosed autoimmune diseases. Results: We report a Caucasian woman in her 50's with a serologically (anti-SSA/Ro, anti-MPO-ANCA antibodies) and histologically confirmed diagnosis of symptomatic SS and MPA. SS with MPO-ANCA positivity preceded MPA. An exploratory autoantigen array detected a broad spectrum of autoantibodies. WES revealed heterozygous carrier status of the PTPN22 mutation R620W, which is associated with an increased risk for autoimmunity. A similar combination of positive anti-SSA/Ro autoantibodies and ANCA was only present in 5/1184 (0.42%) other patients tested for both antibodies in our clinic over six years. Amongst 85 acromegalypatients seen at our clinic in a 20-year period, 12% had a clinically relevant associated immunological disease. Conclusion: We present a rare case of SS and AAV in a patient with acromegaly and multiple autoantibody specificities. Patients with SS and ANCA should be closely monitored for the development of (subclinical) AAV. Whether acromegaly represents a risk for autoimmunity should be further investigated in prospective acromegaly cohorts.
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