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Wegener’s granulomatosis, also called Wegener’s disease, is an uncommon autoimmune condition that triggers inflammation in the small blood vessels of your body. This inflammation – the result of your immune system attacking your own tissues – leads to the development of granulomas, or nodules, in various organs. As more granulomas form and enlarge, your organs are less able to perform their vital functions. If not treated, Wegener’s disease can be fatal.
Wegener’s can affect nearly any organ in your body, but it most commonly involves the respiratory tract (nose, sinuses, windpipe, and lungs) and the kidneys. The disease affects men and women equally, it can occur at any age (the mean age at onset is 40 years), and it occurs more often in Caucasians than in other ethnic groups. About 1 in 25,000 people are affected by Wegener’s disease.

Since the 1970s, in an effort to develop effective treatments that don’t carry an unacceptable burden of side effects, scientists have earnestly sought a cause for Wegener’s disease. Unfortunately, that cause remains elusive, and the mainstay of therapy for this condition still consists of powerful immunosuppressant drugs that are poorly tolerated by most patients.

Signs and Symptoms of Wegener’s Disease

Wegener’s can begin suddenly or it can develop insidiously, taking many years to become manifest. Signs and symptoms – many of which resemble those of other autoimmune conditions – may include:
  • Fever
  • Fatigue
  • Loss of appetite
  • Weight loss
  • Migratory arthritis and joint pain
  • Nasal discharge, either purulent (pus) or bloody
  • Headache (often due to sinus involvement)
  • Ulcerations of the nasal mucous membranes
  • Recurrent bacterial infections of the nose and sinuses
  • Recurrent ear infections
  • Chronic cough, sometimes with bloody sputum
  • Skin nodules and ulcerations
  • Excessive tearing (due to obstruction of tear ducts)
  • Conjunctivitis
  • Bulging of the eyes (due to development of orbital granulomas)
  • Shortness of breath
  • Angina and heart attack (due to obstruction of coronary arteries)
  • Numbness or abnormal sensations (due to nerve involvement)
  • High blood pressure (usually due to kidney involvement)
  • Anemia
  • Renal insufficiency or kidney failure

How is Wegener’s Granulomatosis Diagnosed?

Many of the tests used to detect Wegener’s disease are the same ones used to diagnose other autoimmune disorders. Indeed, there is a great deal of “laboratory overlap” among autoimmune disorders:
  • Blood tests: Erythrocyte sedimentation rate is often elevated; white blood cell count is commonly high; red blood cell count is often low, sometimes severely so; antineutrophilic cytoplasmic antibodies (ANCA) are often present (specificity for Wegener’s is high with this test, but a positive ANCA screen is not diagnostic).
  • When the kidneys are involved, urinalysis may reveal hematuria (blood in the urine), proteinuria (protein in the urine), and casts of red blood cells.
  • X-ray studies of lungs or nasal sinuses may reveal typical granulomas.
  • Biopsy of an involved organ or tissue is the key to confirming Wegener’s disease. Lung biopsy is the most commonly performed procedure.
Early diagnosis is important, because prompt treatment can induce remission and prevent complications – or even death.

Treatment for Wegener’s Granulomatosis

High-dose prednisone and cyclophosphamide are typically the first agents used to treat Wegener’s disease. These drugs effectively suppress immune activity, which reduces inflammation and slows granuloma formation. Unfortunately, this immunosuppressive property also accounts for some of these medications’ side effects, which include opportunistic infections and a heightened risk for certain types of cancer.

Because cyclophosphamide is a particularly toxic drug, it is usually replaced by other medications – methotrexate or azathioprine, for example – once Wegener’s is in remission. Recently, immunomodulators, such as rituximab, and intravenous immunoglobulins have demonstrated their usefulness in treating Wegener’s disease.

Fortunately, most patients with Wegener's disease can begin tapering immunosuppressant medications within two to three years.

Source:

The Merck Manual of Diagnosis and Therapy, 18th Edition. Wegener's granulomatosis. Mark H. Beers, MD, Editor-in-Chief. 2006:281-283

 


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