Modern rheumatology case reports最新文献

Anti-TNF agents like Adalimumab are safe and effective for rheumatologic disorders, but they have been reported to cause demyelinating diseases like Multiple Sclerosis (MS). A 47-year-old woman with left hand weakness was evaluated. She had a previous medical history of Intermediate Uveitis (IU) and Rheumatoid arthritis (RA). anti-TNF-α treatment was initiated with adalimumab two years before this visit. MRI showed numerous T2-hyperintense lesions in bilateral periventricular, juxtacortical, and subcortical areas, which were absent in her scan before anti-TNF therapy. She was diagnosed with MS, and Adalimumab was discontinued. IV glucocorticoids (GCs) were administered with marked improvement. She was then started on anti-CD20 therapy with Rituximab. A year later, she was symptom-free, and her follow-up Brain MRI showed no new lesions. The link between MS and TNF-α inhibitors is poorly understood, but several hypotheses have been proposed. Discontinuing anti-TNF therapy alone may not be enough to prevent further demyelinating disease activity, and it is essential to consider the necessity of starting a disease-modifying treatment. Autoimmunity plays a significant role in rheumatologic and neurological diseases, and as personalized medicine advances, understanding genetic risk is crucial for selecting appropriate therapeutic targets. A thorough evaluation of a patient's family background is recommended before therapeutic decision-making, especially in patients with multiple autoimmune disorders, and the question of whether TNF-α is a suitable therapeutic target in patients with multiple autoimmune disorders is raised.

Pachydermodactyly, an uncommon variant of digital fibromatosis, predominantly affects young men and results in fibrous swelling on the sides of the proximal interphalangeal joints. It is generally considered benign and asymptomatic, requiring only regular follow-up. Nevertheless, the absence of established diagnostic criteria has led to misdiagnoses, prompting the administration of unnecessary medications. In this report, we present a 14-year-old Japanese male with symptomatic pachydermodactyly, necessitating careful differentiation from juvenile idiopathic arthritis (JIA) due to the presence of morning stiffness. Despite exhibiting typical pachydermodactyly features, the patient's age and symptoms suggested rheumatoid factor-negative polyarticular JIA. However, the lack of inflammatory findings precluded a JIA diagnosis. Following confirmation of the absence of uveitis and progression of bone destruction, the morning stiffness spontaneously resolved without active treatment. However, the patient underwent surgery for aesthetic reasons to alleviate the persistent swelling. Our case highlights the nuances of symptomatic pachydermodactyly, with a literature review revealing similarities between symptomatic and asymptomatic cases. This challenges the suitability of asymptomatic status as a definitive diagnostic criterion. Our findings contribute to the ongoing efforts in establishing diagnostic criteria for pachydermodactyly, aiming to reduce misdiagnoses and unnecessary medications in patients.

Although distal tibial oblique osteotomy (DTOO) has usually been indicated for non-inflammatory diseases such as osteoarthritis, we encountered three patients with rheumatoid arthritis (RA) who underwent DTOO. We evaluated radiographic parameters and clinical scores, including self-reported scores for the foot and ankle (SAFE-Q) and the Japanese Society for Surgery of the Foot (JSSF) ankle/hindfoot scale. In all three cases, radiographic improvements were achieved along with improvements in SAFE-Q and JSSF scores after mid-term follow-up. Supramalleolar osteotomy including DTOO could be indicated even for inflammatory diseases such as RA, if erosive changes are not evident in the ankle joint.

A 62-year-old man had bilateral eyelid swelling for 4 months. Two months before admission, he developed fatigue and lost 5 kg of bodyweight. Further examination revealed elevated serum C-reactive protein, normal angiotensin-converting enzyme, elevated proteinase-3 antineutrophil cytoplasmic antibody (PR3-ANCA), and normal IgG4 concentration. Chest X-ray and computed tomography showed no enlarged hilar lymph nodes, but positron emission tomography-computed tomography showed fluorodeoxyglucose accumulation in both lacrimal glands, in lung nodules, and in the pancreas. Tissue biopsies of the lacrimal glands and pulmonary nodules showed granuloma with giant cells, but no IgG4-positive cells or fibrosis. Pancreatic tissue showed no findings of autoimmune pancreatitis. In the 2022 ACR/EULAR classification criteria for granulomatosis with polyangiitis, the total score was 10 points. Final comprehensive diagnosis was granulomatosis with polyangiitis, based on the negative results of differential diseases, such as IgG4-related diseases and sarcoidosis. Prednisolone 60 mg/day was started on day 8, and rituximab 500 mg/body/week on day 12. After beginning treatment, general malaise and lacrimal gland enlargement were resolved, PR3-ANCA and C-reactive protein became negative, and the nodular shadow in the lungs disappeared. This is the first report of granulomatosis with polyangiitis presenting both lacrimal gland and pancreatic lesions.

Osteoarthritis (OA) is a common condition. The treatment of knee OA aims to improve the quality of life and clinical symptoms, mainly knee pain. To develop a new treatment option, diclofenac etalhyaluronate (DF-HA;ONO-5704/SI-613; trade name: JOYCLU) was developed. Its anti-inflammatory and pain-relieving effects have been demonstrated. Conversely, adverse events have also been reported. Here, we report the case of a 71-year-old female who presented with anaphylaxis and prolonged allergic reactions after an intra-articular injection of JOYCLU. A basophil activation test (BAT) was performed to determine the cause of the anaphylaxis. BAT showed no positive findings. As the incidence of knee OA increases, the number of cases of JOYCLU use is expected to grow; therefore, careful administration is required. In this case, the cause was unknown by BAT. Thus, further development of appropriate testing methods is necessary. Intra-articular allergic reactions in knee OA may be modified and worsened besides normal allergic reactions; therefore, caution is required.

Lymphomatoid granulomatosis (LYG) is a rare, T-cell-rich Epstein-Barr virus (EBV)-positive B-cell lymphoproliferative systemic disease. Only a few cases of LYG have been described in patients with autoimmune disorders, with only one case described in a patient with systemic lupus erythematosus (SLE). However, no cases of isolated central nervous system (CNS)-LYG have been reported in patients with autoimmune diseases. Since isolated CNS involvement is rare, its clinicopathological features remain incompletely understood. Herein, we report about an 85-year-old Japanese woman who was diagnosed with SLE 26 years ago and was stable and maintained on prednisone (5 mg/day) for 20 years. Twenty-six days before admission, she developed cognitive dysfunction. Brain magnetic resonance imaging (MRI) revealed multiple nodular lesions with ring-like enhancements seen on gadolinium-enhanced T1-weighted imaging. A brain biopsy was performed on the right frontal lobe lesion. Pathological findings revealed T-cell infiltration surrounding the blood vessels with fibrin deposition, a few multinucleated cells, and large atypical cells with prominent nucleoli. Large atypical cells positive for CD20 and EBV-encoded RNA (EBER) were seen at a density of >100 cells per high-power field. Based on laboratory testing, imaging, and pathology findings, the patient was diagnosed with grade III LYG. Treatment with tirabrutinib (480 mg once daily) was started. The patient achieved clinical response to treatment, as evidenced by improved mental status. In patients with SLE who present with multiple nodular or ring-like lesions on brain MRI, brain biopsy with histological diagnosis is crucial for the exclusion of CNS-LYG.

Multifocal osteonecrosis is a rare entity which can lead to bone fragility, fractures and considerable morbidity. The objective of this report is to describe the presentation, evaluation and management of a case of multifocal osteonecrosis. A 34-year-old lady presented with multiple fractures and bone pain which was exacerbated during pregnancy. She was found to have osteonecrosis involving multiple sites. Investigation revealed that she had an undefined autoimmune condition with antinuclear antibody and anti-Ro (SS-A) positivity, not fulfilling criteria for diagnosis of Sjogren syndrome. She had low Protein S levels for age and gender (confirmed on 2 occasions 12 weeks apart outside pregnancy). She had a novel variant in the PROS1 gene (NM_000313.4:c.1513G>A; p.Gly505Ser) which is associated with heterozygous Protein S (PS) deficiency. She had a good response to treatment with anticoagulation. The combination of inherited thrombophilia, autoimmunity and the thrombophilic state induced by pregnancy probably contributed to the severe phenotype in this patient. The variant was identified in the Lamin G1 domain, which is instrumental in PS binding to tissue factor pathway inhibitor and C4 binding protein, thus playing a role in both the coagulation and complement pathway, and could explain the coexistence of autoimmunity with thrombophilia. This variant is present in 0.034% of South Asians in the gnomAD population database, and may represent an important cause of inherited thrombophilia in this group.

This case report describes a case of isolated adrenocorticotropic hormone (ACTH) deficiency that presented with arthritis. Initial investigations, including blood tests, imaging, and musculoskeletal ultrasonography, did not confirm to any specific connective tissue disease, making it initially difficult to identify the cause of the arthritis. Subsequent adrenal crisis led to the diagnosis of isolated ACTH deficiency through comprehensive endocrine evaluation. The patient's musculoskeletal symptoms were resolved following corticosteroid replacement therapy together with generalized symptoms. This report highlights isolated ACTH deficiency as a rare but one of the causes of polyarticular joint pain and underscores the importance of considering endocrine disorders in the differential diagnosis of unexplained arthritis, particularly when accompanied by systemic symptoms.

A 54-year-old woman developed stage IV breast cancer 8 years prior. Chemotherapy was administered, and she was started on zoledronic acid treatment for her bone metastases. Her chemotherapy regimen was then switched, owing to disease progression. Fifty-seven months after starting treatment with zoledronic acid, the patient suffered an atypical femoral fracture of her right femur, for which she underwent surgery. Twenty months later, she developed another atypical femoral fracture in her left femur and underwent intramedullary nail fixation. Zoledronic acid and denosumab use in patients with metastatic bone tumors caused by breast cancer should be done cautiously, considering atypical femoral fracture risk.

Rheumatoid arthritis (RA) is a systemic disease, which is caused by dysregulation of the immune system in the susceptible persons, making them immunocompromised and prone to infections during the course of their disease. The majority of RA patients are being treated with immunosuppressive drugs which render them even more immunocompromised. We present a Caucasian patient living in South-eastern Europe who developed prolonged eosinophilia during the treatment of RA with upadacitinib. After a comprehensive work-up she was diagnosed with Strongyloidiasis although living in non-endemic region of the world. We emphasize the importance of regular follow-up of immunocompromised patients and raise awareness of not only typical but also atypical infections which can occur during the course of the disease.