Rare autoimmune disease attacks blood vessels
Dear Doctor:
My brother died from Wegener’s disease at age 62. Could you please tell me more about this disease – what causes it and what can be done? Could there be a connection to the fact that our father died of rheumatoid arthritis at age 64?
I’m sorry to hear about the loss of your brother – and understand your desire to learn more about this rare disease. For starters, Wegener’s is named after Friedrich Wegener, the German pathologist who defined it. In recent years, Wegener’s has been called granulomatosis with polyangiitis (GPA), which more accurately describes the disease. Granulomatosis refers to masses of scar tissue, and polyangiitis refers to inflammation of blood vessels.
An autoimmune condition that affects one to two per 100,000 people per year, GPA is usually linked to an abnormal protein called ANCA, for antineutrophil cytoplasmic antibody. ANCA attacks two types of white blood cells, monocytes and – more important – neutrophils.
The hallmark of the disease is vascular inflammation of the organs, most notably the lungs, affecting their air spaces and leading to scar tissue that forms nodules within them. In a severe form of GPA, the small blood vessels
Dear Reader:
leak blood into the air spaces, causing a sudden drop in a person’s oxygen level. This is turn leads to a coughing-up of blood and the failure of the respiratory system.
In most cases – 90 percent – GPA also affects the sinuses, nose, ears, mouth or throat. These symptoms can appear similar to those caused by common nasal congestion, sinusitis or a runny nose. But as the disease progresses, it can cause ulcers in the nose and mouth, hearing loss and the destruction of nose cartilage, resulting in nasal deformities.
Because the disease is, in effect, an autoimmune attack, treatment focuses on suppressing the immune system with steroids and other drugs. Although these drugs have side effects, they’re effective in controlling the disease. Once remission occurs, patients can switch to milder immune-suppressing drugs. Note that the disease can reoccur.
Why the disease develops is unknown. It’s possible that an infection may lead to the formation of ANCA, causing GPA; genetic factors may play a role as well. In fact, one study found similar genetic changes in GPA and rheumatoid arthritis, so your father’s history of rheumatoid arthritis may be a factor. As you can see, however, more research is needed. You’re not alone in wanting answers.
Robert Ashley, M.D., is an internist and assistant professor of medicine at the University of California, Los Angeles.
Send your questions to askthedoctors@mednet.ucla.edu.