An Overlapping Case of IgG4-related Disease and Klinefelter Syndrome with Lupus-like Serological and Neurological Features: A Case Report and Literature Review

Takanashi, Satoshi; Hanaoka, Hironari; Ota, Yuichiro; Kaneko, Yuko; Takeuchi, Tsutomu

doi:10.2169/internalmedicine.4888-20

Cited by 5 publications

(7 citation statements)

References 35 publications

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“…This age range aligns more closely with the demographic profile of patients with IgG4-RD, which primarily affects middle-aged and older individuals [4]. Renal involvement appears to be a common feature in all the reported cases, evident through microscopic examination or imaging studies [3,[5][6][7]. Other manifestations of the disease overlap include skin involvement and lymphadenopathy, which are well-documented features of IgG4-RD [6,7].…”

Section: Discussionsupporting

confidence: 70%

“…Regarding treatment, a combination of steroids and steroid-sparing agents was employed in most patients, which focused on managing the SLE component [3,[5][6][7]. In our case, the patient was started on pulse-dose steroids and Plaquenil, followed by low-dose steroid maintenance and rituximab therapy.…”

Section: Discussionmentioning

confidence: 98%

“…This case report presents a rare occurrence of concurrent SLE and IgG4-RD. As far as we know, only a limited number of case reports documenting the coexistence of these two conditions have been published [3,[5][6][7].…”

Section: Discussionmentioning

confidence: 99%

“…In our case, the patient was started on pulse-dose steroids and Plaquenil, followed by low-dose steroid maintenance and rituximab therapy. Other authors utilized prednisone, Plaquenil, cyclophosphamide, and mycophenolate mofetil (MMF) for induction and maintenance treatment (3,5,6). Yamamoto et al reported the successful use of belimumab after the failure of prednisone and MMF therapy [7].…”

Section: Discussionmentioning

confidence: 99%

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Overlapping Tubulointerstitial Lupus Nephritis and Immunoglobulin G4-Related Disease: A Case Report

Karageorgiou¹,

Pokharel²,

Acharya³

et al. 2023

Cureus

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Immunoglobulin G4-related disease (IgG4-RD) in conjunction with systemic lupus erythematosus (SLE) is a rare occurrence. In this case report, we present the case of a 50-year-old female who was diagnosed with SLE based on clinical and laboratory criteria. The patient exhibited pericardial effusion necessitating pericardiocentesis, pleural effusion requiring thoracentesis, and impaired renal function necessitating dialysis. Renal biopsy revealed findings consistent with tubulointerstitial lupus nephritis and IgG4-related disease. Additionally, elevated levels of serum IgG4 were detected. The patient received intravenous pulse dose steroids and oral steroids, which were tapered gradually, followed by daily hydroxychloroquine treatment and two doses of rituximab every two weeks. Consequently, the patient experienced an improvement in renal function and no longer needed dialysis. To our knowledge, only a few reports of this overlap exist. This late diagnosis of SLE could be explained by the fact that IgG4 is associated with milder renal disease in lupus patients, due to its inability to activate the classical complement pathway. IgG4-RD/SLE overlap patients usually respond well to a combination of steroids and other immunosuppressants used to treat SLE. However, our experience with treating this disease overlap remains limited due to its extreme rarity.

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Section: Discussionsupporting

confidence: 70%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Overlapping Tubulointerstitial Lupus Nephritis and Immunoglobulin G4-Related Disease: A Case Report

Karageorgiou¹,

Pokharel²,

Acharya³

et al. 2023

Cureus

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“…It has been reported an overlapping case of IgG4-Related Disease and Klinefelter's Syndrome with Lupus-Like serological features with no lung's involvement [5].…”

Section: Discussionmentioning

confidence: 99%

Bilateral Lung Transplantation Due to Sjögren's Syndrome in a Patient with Klinefelter Syndrome

Beauperthuy¹,

Francisco²,

Esparcia³

et al. 2021

Clin Med Rev Case Rep

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Klinefelter syndrome is one of the most frequent congenital chromosome disorders. Autoimmune diseases are not uncommon in patients with Klinefelter syndrome and associations between them have long been described. However, there is a paucity of literature regarding the effect of hypogonadism on respiratory system in these patients. Herein, we described a 28-year-old patient who presented with a constellation of unexplained respiratory signs and symptoms, such as tachypnea, hypoxemia, crackles recurrent pulmonary infections since childhood and progressive worsening of his pulmonary function, was diagnosed with Klinefelter syndrome in adulthood. CT chest with diffuse interstitial lung involvement and multiple cystic areas. Based on the radiological findings, an underlying autoimmune process was suspected and investigations showed findings compatible with Sjögren's syndrome. Double lung transplantation was thus indicated considering the irreversible interstitial changes in both lungs. Explant biopsy showed up histological pattern suggestive of interstitial lung disease with autoimmune features. Therefore, the importance of suspecting connective tissue diseases in patients with Klinefelter syndrome, perhaps due to the double X chromosome and a low androgen-toestrogen ratio that characterizes them.

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Discriminative features of immunoglobulin G4-related disease (IgG4-RD) and associated autoimmune rheumatic diseases (ARDs) in a nationwide observational cohort: study from the Egyptian College of Rheumatology

El-Saadany,

Tharwat

et al. 2025

Clin Rheumatol

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Objective The objective of this study is to present the clinical characteristics of immunoglobulin G4-related diseases (IgG4-RD) patients and describe associated overlap with autoimmune rheumatic diseases (ARDs). Patients and methods This cross-sectional study included 81 patients with IgG4-RD who were recruited from 13 specialized rheumatology departments and centers across the country in collaboration with the Egyptian College of Rheumatology (ECR). Patients underwent a thorough history-taking and clinical examination. We reviewed patients’ medical records and recorded the medications they used. The presence of comorbidities or cumulative manifestations was determined. Laboratory investigations, imaging, and biopsy histopathology were assessed. Results The mean (SD) age was 41.4 (14.6) years with 60 females and 21 males (F/M 2.9:1). The diagnosis was definite in 50 (61.7%), probable in 19 (23.5%), and possible in 12 (14.8%). The most common cumulative clinical features are IgG4-related respiratory disease in 19 (23.5%), autoimmune pancreatitis (AIP) in 18 (22.2%), and Riedel’s thyroiditis in 17 (21.0%). Approximately 80% were administered corticosteroids, whereas 40% received azathioprine as adjunct therapy. Approximately 16% developed a relapse with this combination and transitioned to an alternative steroid-sparing treatment. Twelve individuals (14.7%) required rituximab. Fifty percent of patients receiving rituximab (six patients) exhibited complete improvement, while the remaining had partial improvement. Ten (12.3%) patients had associated ARDs: five (6.2%) with systemic lupus erythematosus (SLE), four (4.9%) with rheumatoid arthritis (RA), and one with vasculitis. Of the four patients with associated RA, three were rheumatoid factor (RF) negative. IgG4 was in all cases, RF was positive in 18.5%, and antinuclear antibody was in 14.7%. Conclusion IgG4-RDs exhibit a wide range of presentations, closely associated with ARDs. Awareness among clinicians about this condition will increase their consideration and rate of prompt diagnosis, which is essential to prevent damage to critical organs. Key Points • IgG4-RDs have a myriad spectrum of presentation with a close link to rheumatic diseases.• Awareness among clinicians about this condition will increase their consideration and rate of prompt diagnosis.• The lack of reliable biomarkers for this condition has been an important hurdle for diagnosis.

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An Overlapping Case of IgG4-related Disease and Klinefelter Syndrome with Lupus-like Serological and Neurological Features: A Case Report and Literature Review

Cited by 5 publications

References 35 publications

Overlapping Tubulointerstitial Lupus Nephritis and Immunoglobulin G4-Related Disease: A Case Report

Overlapping Tubulointerstitial Lupus Nephritis and Immunoglobulin G4-Related Disease: A Case Report

Bilateral Lung Transplantation Due to Sjögren's Syndrome in a Patient with Klinefelter Syndrome

Discriminative features of immunoglobulin G4-related disease (IgG4-RD) and associated autoimmune rheumatic diseases (ARDs) in a nationwide observational cohort: study from the Egyptian College of Rheumatology

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