Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare small- to medium-vessel vasculitis characterized by asthma, eosinophilia, and multisystem involvement. Diagnosis is challenging in ANCA-negative disease, particularly when misleading serology is present. We describe a 42-year-old woman with long-standing asthma and a rheumatoid factor (RF) of 322 IU/mL, who initially presented with myocardial infarction–like cardiac involvement with non-obstructive coronary arteries. Over the subsequent seven months, progressive eosinophilia, chronic rhinosinusitis with nasal polyposis, and mononeuritis multiplex emerged. ANCA-negative EGPA was diagnosed after connective tissue disease, infection, malignancy, and other causes of hypereosinophilia were excluded. She was treated with prednisolone and azathioprine and subsequently remained off immunosuppressive therapy for more than nine years without reported relapse. On later clinical reassessment, she remained stable apart from mild residual neuropathic symptoms. We also conducted a case-based review following the CABARET standards, searching PubMed/MEDLINE, Scopus, Embase, and Web of Science up to 15 August 2026. We identified 38 published cases of ANCA-negative, RF-positive EGPA, 36 of them without pre-existing rheumatoid arthritis. In these 36, the median age was 53 years and 69
Foot and ankle involvement is a common but frequently overlooked manifestation of spondyloarthritis (SpA). This study aimed to evaluate the frequency, anatomical patterns, and factors associated with foot and ankle involvement in a SpA cohort. This post hoc analysis included 489 patients from the Turkish cohort of the ASAS-PerSpA study. Foot and ankle involvement was defined as the presence of arthritis, enthesitis, and/or dactylitis. Anatomical distribution of each manifestation was analyzed, and demographic and clinical characteristics were compared between patients with and without involvement. Multivariable logistic regression was performed to identify factors independently associated with foot and ankle involvement. Foot and ankle involvement was identified in 229 of 489 patients (46.8
Common variable immunodeficiency (CVID) is the most common primary immune defficiency in adults. Patients with CVID present with predominant antibody deficiency and reduced serum levels of immunoglobulin class G, A and/ or M. The disease is frequently complicated by non-infectious organ involvement, including hepatosplenomegaly secondary to immune dysregulation and lymphoproliferation. Sirolimus is a mTORC1 inhibitor, used as immunosuppressant in transplant medicine, increasingly inborn errors of immunity with lymphoproliferation and autoimmunity, including CVID and monogenic CVID-like disorders. Therefore, we describe the case of a 50-year-old patient diagnosed with CVID for 5 years, on regular IVIG (intravenous immunoglobulins) replacement who developed progressive hepatosplenomegaly and cytopenias despite adequate infection preventive healthcare. The patient reported increasing abdominal enlargement, dyspnea, and fatigue. She had also noted excessive daytime and nighttime sweating, initially partly attributed to menopausal status. Physical examination confirmed marked hepatosplenomegaly. Initial evaluation excluded acute infection and overt lymphoma. Abdominal imaging revealed hepatosplenomegaly without focal lesions, raising suspicion of immune-mediated lymphoproliferation related to CVID. Sirolimus was introduced as a steroid-sparing agent for presumed immune dysregulation. During sirolimus treatment, spleen length decreased from 23 cm before initiation to 13 cm after 5 months and 12 cm after 7 months, while liver size fell from 18 cm to 15 cm. Platelet count rose from 37 to 75 × 10³/µL, and aspartate aminotransferase activity declined from 77 to 58 U/L, with alanine aminotransferase dropping from 93 to 47 U/L. Leukopenia, neutropenia, and elevated alkaline phosphatase activity, however, persisted. The patient reported improvement in constitutional and abdominal symptoms,and no serious infectious complications occurred during treatment. This case demonstrates a marked organ response and a partial platelet response to sirolimus in complicated CVID, suggesting that mTOR inhibition may be considered in carefully selected patients with CVID-associated immune dysregulation and lymphoproliferative hepatosplenic involvement, although its efficacy and safety require confirmation in larger studies.
