European Initiative Targets Diagnosis, Treatment of Rare Diseases

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Cardiac tamponade, the buildup of fluid in the space surrounding the heart, revealed a case of eosinophilic granulomatosis with polyangiitis (EGPA) that was successfully treated with prednisolone and a procedure for removing the fluid, a case report states. The study, “Anti-proteinase 3-positive Eosinophilic Granulomatosis with Polyangiitis Revealed by…

High blood pressure and other cardiovascular risk factors are highly prevalent in people with ANCA-associated vasculitis (AAV), and a sizable number — more than one-third — of patients are not properly treated, researchers report. The work, “Prevalence and management of cardiovascular risk factors in ANCA-associated vasculitis,”…

Patients with ANCA-associated vasculitis (AAV) experience significant increases in serum lipid levels during remission induction, particularly those who are newly diagnosed or have anti-PR3 antibodies, according to new research. The findings also indicated that disease phase and antibody type are associated with differential levels of inflammation and could…

People with ANCA-associated vasculitis (AAV) experience much worse fatigue than the general population, and although this eases in many with treatment, a small subgroup can continue to have high fatigue levels, according to a study in 150 newly diagnosed patients who took part in clinical trials. Those in this…

People with ANCA-associated vasculitis who have high levels of a protein called aminoacyl-tRNA synthetase-interacting multifunctional protein-1 (AIMP1) in their blood serum might be at higher risk of developing a severe form of the disease, a study has found. The study, “Serum Aminoacyl-tRNA Synthetase-Interacting Multifunctional Protein-1…

Patients with ANCA-associated vasculitis (AAV) with low levels of complement proteins develop greater kidney damage, according to new research. The study, “Increased renal damage in hypocomplementemic patients with ANCA-associated vasculitis: retrospective cohort study,” appeared in the journal Clinical Rheumatology. The complement system — a…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

In the rare event that ANCA-associated vasculitis affects a large blood vessel like the aorta, treatment with Rituxan (rituximab) appears to improve symptoms and reduce inflammation, a case report shows. The study, “Aortitis caused by antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis: a case-based review,” was published in…

The complement system, an important part of immunity, is activated in ANCA-associated vasculitis patients with myeloperoxidase (MPO) antibodies as well as those with proteinase 3 (PR3) ANCA antibodies, but its activation profile appears to differ by severity of disease and possibly by ANCA subtype, a new study shows. The…