Rare Disease Film Festival Highlights Patient and Researcher Unity

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

People with systemic lupus erythematosus (SLE) or granulomatosis with polyangiitis (GPA) who undergo kidney transplants have high survival rates over the long term without evidence of an increased risk of cancer, a study has found. Titled “Long-Term Outcomes of Renal Transplant in Patients With End-Stage…

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis can result in inflammation of the appendix — commonly known as appendicitis — without any additional systemic symptoms, researchers report for the first time. The finding highlights the diverse effects of this autoimmune disorder and the importance of careful patient evaluation for adequate diagnosis…

Dialysis for Japanese patients with kidney disease triggered by ANCA-associated vasculitis led to fewer life-threatening relapses and reduced doses of immunosuppressive steroids, a long-term study suggests. The study, “Long‑term follow‑up characteristics of patients with anti‑neutrophil cytoplasmic antibody (ANCA)‑associated vasculitis (AAV) receiving chronic…

Measuring the levels of activin A protein in the urine can help clinicians identify patients who have renal problems caused by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis, Japanese researchers found. Additional studies are still warranted to shed light on the underlying role of activin A — a potential…

High levels of a small RNA molecule called miR-142-3p may impair the function of immune regulatory T-cells in people with granulomatosis with polyangiitis (GPA), a study has found. The study, “Increased miR-142-3p Expression Might Explain Reduced Regulatory T Cell Function in Granulomatosis With Polyangiitis,” was published…

The development of a population of mutated blood cells — a phenomenon called clonal hematopoiesis of indeterminate potential — is more frequent in ANCA-associated vasculitis (AAV) patients than in healthy people, and may modify the clinical outcomes of the disease, a study reports. Some patients with such blood cell populations…

Allison Lint Ross looked like a typical healthy 16-year-old when she suddenly began to experience breathing difficulties, weakness, and disorientation that landed her in the emergency room. The talented violinist nearly died that day in 2004. Doctors discovered a lung hemorrhage and signs that her body was shutting…

ANCA-associated vasculitis (AAV) can cause recurrent bleeding in the lungs, which manifest as hemosiderosis — an excessive accumulation of iron deposits in tissues — and lung nodules, a case report suggests. The study, “Pathological and Radiological Correlation in Prolonged Myeloperoxidase Anti-neutrophil Cytoplasmic Antibody-related Diffuse Alveolar Hemosiderosis,”…

Administering rituximab repeatedly may improve the response of patients with ANCA-associated vasculitis (AAV) to the medication, a study says. The findings were reported in the study, “Non‐Linear Rituximab Pharmacokinetics and Complex Relationship between Rituximab Concentrations and Anti‐Neutrophil Cytoplasmic Antibodies (ANCA) in ANCA‐Associated Vasculitis: The RAVE Trial Revisited,”…