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    Rare Disease of Blood Vessels Often Undiagnosed in Early Stages

Rare Disease of Blood Vessels Often Undiagnosed in Early Stages

January 29, 2010

Dear Mayo Clinic:

My wife recently passed away from Wegener's, which was not diagnosed until her kidneys had begun to fail. My family and I were caught by surprise because it took her so quick. Is it possible that she had Wegener's for a long period of time? We want to know more about the disease for our understanding of what occurred and to educate the remainder of our family.


Wegener's granulomatosis is a rare disease of the blood vessels that often goes undiagnosed in its early stages. Perhaps your wife had Wegener's for some time, but knowing for certain would be difficult. Wegener's commonly affects the kidneys, and, if not treated promptly, can result in kidney failure. The disease also can affect the lungs and upper respiratory tract.

Wegener's granulomatosis is a form of vasculitis — an inflammation of blood vessel walls. Specifically, Wegener's is a type of small-cell vasculitis. Involved primarily are the body's smallest blood vessels, such as those in a person's nose, ears, sinuses, lungs and kidneys.

In addition to inflamed blood vessels, the condition produces a type of inflammatory tissue known as granuloma, found around blood vessels. Granulomas can destroy normal tissue. The combination of granulomas and inflammation, which causes narrowing or blockage of the blood vessels, leads to organ damage.

Wegener's can be difficult to diagnose early, because symptoms are usually vague and vary depending on the organs affected. For example, if Wegener's affects blood vessels in the upper respiratory tract, symptoms can include a constantly runny nose, nosebleeds or ear discomfort. If the lungs are affected, Wegener's may cause shortness of breath, coughing or bleeding in the lungs. As in your wife's situation, kidneys affected by Wegener's may not show any signs or symptoms until they begin to fail. Further complicating matters, Wegener's can progress quickly, making early detection even more challenging.

Even if a health care provider suspects Wegener's, diagnostic blood or urine tests to identify the disease have limited utility. One blood test that may be helpful can detect certain proteins (autoantibodies) in the blood called anti-neutrophil cytoplasmic autoantibodies (ANCA). These autoantibodies appear in the blood of 80 to 95 percent of people with active disease. The presence of these autoantibodies supports a diagnosis of Wegener's but isn't enough to confirm that a person has the disease. The only way to definitively diagnose Wegener's is to remove a small piece of tissue from an affected organ and examine it under a microscope (biopsy).

Wegener's granulomatosis is an autoimmune disorder, which means a person's immune system damages its own tissue. Once diagnosed, the disease requires aggressive treatment with immune-suppressant medicines to reduce blood vessel inflammation and prevent further damage. Corticosteroids, typically prednisone, are commonly prescribed, because they are effective at suppressing inflammation. Other immunosuppressive drugs may also be used to limit the amount of corticosteroids given, because corticosteroids can cause bothersome side effects.

If the disease progresses to a stage that suggests the possibility of organ failure, or if Wegener's becomes life-threatening, chemotherapy drugs may be used to induce remission. Clinical trials are also investigating new medications to treat the condition.

Because Wegener's is a chronic condition, treatment typically lasts for years. Most patients require long-term immunosuppressive therapy. Close follow-up by a physician is also required. A rheumatologist usually guides treatment of Wegener's. Important to effective long-term treatment, however, is a multidisciplinary approach that includes other specialists — such as a pulmonologist if the lungs are involved or a nephrologist for kidney involvement.

Although the cause of Wegener's granulomatosis is not known, researchers do not believe it is hereditary. The family members of someone who has Wegener's do not appear to be at increased risk of developing the disease.

— Kenneth Warrington, M.D., Rheumatology, Mayo Clinic, Rochester, Minn.