FDA approves first treatment for children with rare diseases that cause inflammation of small blood vessels
FDA approves Rituxan (rituximab) injection to treat granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) in children ages 2 and older in combination with steroid hormones. It is the first approved treatment for children with these rare vasculitis diseases.
Abdominal aortic aneurysm (AAA) in neonates, infants, and children is uncommon, usually occurring as a result of infections, connective tissue disorders, vasculitis, or iatrogenic trauma. A case of idiopathic congenital AAA, an extremely rare disease of unknown origin, is described.
The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reum...
Authors: Felicetti M, Treppo E, Posarelli C, Ferro F, Bond M, Monti S, Elefante E, Trentin F, Delvino P, Talarico R, Baldini C, Quartuccio L Abstract Systemic vasculitides are a group of diseases that could potentially affect any organ with heterogeneous clinical manifestations that usually depend on the size of the most involved vessels. These diseases could be associated with a relevant burden of mortality and morbidity if not early recognised and treated. Moreover, even if they are usually rare diseases, their incidence and prevalence seem to be increasing in the last decade, partially because of improved awaren...
DiscussionARAMIS will help identify effective agents for skin-limited forms of vasculitis, an understudied group of diseases. The SMARTER design may serve as an example for future trials in rare diseases.Trial registrationClinicalTrials.gov:NCT02939573. Registered on 18 October 2016.
AbstractPurpose of ReviewIdiopathic pulmonary hemosiderosis (IPH) is one of the rarest and least understood causes of pulmonary hemorrhage in children. Illustrated by a complex case presentation, we discuss the clinical manifestations, diagnosis, pathology, proposed etiologies, and treatment of this rare disease. We also compare IPH with anti-glomerular basement membrane antibody syndrome (anti-GBM disease), another rare causes of pediatric pulmonary hemorrhage.Recent FindingsRecent retrospective studies regarding IPH along with advanced immunotherapy have led to an improved understanding of how to best treat this conditio...
Authors: Zarka F, Veillette C, Makhzoum JP Abstract Primary systemic vasculitides are rare diseases that may manifest similarly to more commonly encountered conditions. Depending on the size of the vessel affected (large vessel, medium vessel, or small vessel), different vasculitis mimics must be considered. Establishing the right diagnosis of a vasculitis mimic will prevent unnecessary immunosuppressive therapy. PMID: 32148510 [PubMed]
CONCLUSIONS: The clinical features and angiographic type of TA in Iran are different from most Asian countries. Differences in angiographic and clinical features may lead to delayed diagnosis. The issue of delay in diagnosis should create awareness among health care providers that TA is not a very rare disease in Iranians and failure to pay attention to warning symptoms may delay the diagnosis. PMID: 32093440 [PubMed - as supplied by publisher]
We report a patient with Hashimoto thyroiditis, adult-onset Still disease, alopecia, vasculitis, ANCA-mediated crescentic glomerulonephritis, and hyperparathyroidism, which is a very rare combination. We present this case as evidence for the coexistence of several different immune-mediated diseases in the clinical context of a PAS IIIc.
Nature Reviews Rheumatology, Published online: 29 January 2020; doi:10.1038/s41584-020-0376-6Trials studying rare diseases, including immune-mediated inflammatory diseases such as Castleman disease, hyper IgD syndrome and undifferentiated vasculitis, frequently end in noncompletion and nonpublication. A new cross-sectional analysis identifies underlying reasons, but also calls for action to establish international networks that might facilitate recruitment of patients into trials and to ensure timely publication of research findings to advance the field.
AbstractPurpose of ReviewANCA-associated vasculitides (AAV) are a group of rare diseases characterized by blood vessel inflammation and the presence of circulating anti-neutrophil cytoplasmic antibodies recognizing proteinase-3 (PR3) (PR3-ANCA) or myeloperoxidase (MPO), MPO-ANCA.Recent FindingsHistorically, ANCAs have been used as biomarkers for disease associations and increases of ANCA levels as predictors of relapse in patients with AAV.SummaryIn this review, we will summarize and highlight the most recent developments for using ANCA as predictive biomarkers and review some of the important disease-specific features in patients with AAV.