Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients

Abstract

BackgroundANCA-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.MethodsCharacterization 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.ResultsWe 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.ConclusionWe 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.

Co-occurrence of Three Systemic Diseases: ANCA-associated Vasculitis, Sjögren's syndrome and Sarcoidosis

“…However, their co-occurrence in the same patient has been reported. For example, there have been reports of the co-occurrence of SjS and sarcoidosis ( 4 , 5 ) as well as the co-occurrence of AAV and SjS ( 6 , 7 ).…”

A case of Sjögren syndrome and anti-neutrophil cytoplasmic antibody-associated vasculitis

“…The co-occurrence of these conditions was first reported in 1992 by Böttinger et al (3). Since then, nearly 37 cases of SS and AAV have been reported in the literature (4)(5)(6)(7)(8)(9)(10)(11)(12). Kidney involvement has been observed in 2-67% of patients with SS, in 18% of those with AAV at presentation, and in 64% (24 of the 37 patients) of patients with co-occurrence of SS and AAV (2,(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20).…”

“…Since then, nearly 37 cases of SS and AAV have been reported in the literature (4)(5)(6)(7)(8)(9)(10)(11)(12). Kidney involvement has been observed in 2-67% of patients with SS, in 18% of those with AAV at presentation, and in 64% (24 of the 37 patients) of patients with co-occurrence of SS and AAV (2,(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). In these predominantly older and female patients, the emergence of AAV was usually documented approximately 5-15 years later than the diagnosis of SS (4,14).…”