Wegener's granulomatosis (VEG-eh-nerz gran-u-loe-muh-TOE-sis) is an uncommon disorder that causes inflammation of your blood vessels. This inflammation restricts blood flow to various organs.
Wegener's granulomatosis, which is also called granulomatosis with polyangiitis (GPA), often affects your kidneys, lungs and upper respiratory tract. The restricted blood flow to these organs can damage them. Wegener's can affect other organs, but this isn't as common, and generally isn't as serious.
Wegener's granulomatosis also produces a type of inflammatory tissue known as a granuloma that's found around the blood vessels. Granulomas can destroy normal tissue. There is no known cause for Wegener's granulomatosis.
Early diagnosis and treatment of Wegener's granulomatosis may lead to a full recovery. Without treatment, Wegener's granulomatosis can be fatal, most commonly from kidney failure.
Signs and symptoms of Wegener's granulomatosis may develop suddenly or over several months.
The first Wegener's granulomatosis symptoms usually involve areas of your respiratory tract, such as your sinuses, throat or lungs. However, the condition often worsens rapidly, affecting blood vessels and the organs they supply, such as the kidneys. Signs and symptoms may include:
Constantly runny nose, with pus-filled discharge
Sinus pain and inflammation (sinusitis)
Coughing up blood (hemoptysis)
Shortness of breath
General ill feeling (malaise)
Unintended weight loss
Joint aches and swelling
Blood in urine (hematuria)
Eye redness, burning or pain
For some people, the disease is limited to the lungs and doesn't involve the kidneys. Kidney involvement usually doesn't cause symptoms early in the course of the disease, and may be detected only by blood and urine tests. However, in time kidney failure and anemia often occur.
When to see a doctor
See your doctor if you have a persistently runny nose that doesn't respond to over-the-counter (OTC) cold medicines, especially if it's accompanied by nosebleeds and pus-like material, coughing up blood, or other possible signs and symptoms of Wegener's granulomatosis. Because this disease can get worse quickly, early diagnosis is critical to receiving effective treatment.
The cause of Wegener's granulomatosis is unknown. It appears to develop after an initial inflammation-causing event triggers an abnormal reaction from your immune system. The combination of these events can lead to inflamed, constricted blood vessels and harmful inflammatory tissue masses (granulomas). The triggering event may be an infection, but no specific infection has been identified as the cause.
Wegener's granulomatosis can begin at any age, but it most often starts in middle age, with an average onset between 40 and 65. Whites are more likely than blacks to develop Wegener's granulomatosis.
Besides affecting your upper and lower respiratory tracts, Wegener's granulomatosis may affect other organs, including your skin, eyes, ears, kidneys, spinal cord and heart. Complications may include:
Hearing loss. Inflammation of granulated tissue in the middle ear can lead to hearing loss.
Skin scarring. Sores may develop and may lead to severe scarring.
Heart attack. Wegener's granulomatosis can affect the arteries of your heart, resulting in chest pain or a heart attack, though this is rare.
Kidney (renal) damage. As Wegener's granulomatosis progresses, it's likely to affect your kidneys. It can lead to glomerulonephritis, a type of kidney disease that hampers your kidneys' ability to remove waste and excess fluid from your body, leading to a buildup of waste products in your bloodstream (uremia). Kidney failure is a leading cause of death from Wegener's granulomatosis.
You're likely to start by seeing your primary care doctor. However, you may be referred to a specialist, most commonly a lung (pulmonary) specialist, an ear, nose and throat (ENT) specialist, or a kidney specialist (nephrologist). Unless your primary care doctor has some experience with Wegener's granulomatosis, it's unlikely that a diagnosis will be made until you're seen by a specialist.
Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to arrive well prepared. Here's some information to help you get ready for your appointment, and what to expect from your doctor.
What you can do
Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet. This also may apply if you go in for a diagnostic test, such as a lung biopsy.
If you've had any recent blood tests or chest X-rays at another office or hospital, ask the staff to forward the test results and any X-rays to the doctor you're about to see. Or, pick up the material yourself to be sure all the necessary information gets to your new doctor.
Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
Write down key personal information, including any major stresses or recent life changes.
Make a list of all medications, vitamins or supplements that you're taking, or have recently been taking. Bring all of these medications with you to the doctor, in their original containers. Let your doctor know if you're allergic to any medications. Also, let your doctor know if any family members have recently been taking antibiotics.
Get a referral, if necessary. Some insurance companies require referrals for visits to specialists. If you are being referred to a specialist, be sure a letter of referral has been sent to the doctor, or bring it with you.
Write down questions to ask your doctor.
Your time with your doctor is limited, so preparing a list of questions will help make the most of your time together. List your questions from most important to least important, in case time runs out. For the symptoms of Wegener's granulomatosis, some basic questions to ask include:
What is likely causing my symptoms? What are other possible causes?
What kinds of tests will I need? Do these tests require any special preparation?
Is my condition temporary?
What treatment do you recommend?
What side effects can I expect from the treatment?
Are there alternatives to the primary approach that you're suggesting?
I have these other health conditions. How can I best manage these conditions together?
Do I need to see a specialist? Will I need a referral?
Will I need to take medications? If so, is there a generic alternative to the medicine you're prescribing?
Are there any brochures or other printed materials that I can take with me? What websites do you recommend?
Do you know if there are any support groups nearby?
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over points you want to spend more time on. Your doctor may ask:
When did you first begin experiencing symptoms?
Do you smoke?
Have your symptoms been continuous or occasional?
Have you taken your temperature? If yes, what was it?
How severe are your symptoms?
What, if anything, seems to improve your symptoms?
What, if anything, appears to worsen your symptoms?
What you can do in the meantime
If your symptoms are getting worse, tell your primary care doctor so that he or she can try to get you to a specialist quickly.
Besides asking you about your signs and symptoms, conducting a physical exam, and taking a medical history, your doctor may request several tests, including:
Blood tests. If your doctor suspects Wegener's granulomatosis, you'll have a blood test that can detect certain proteins (autoantibodies) in your blood called anti-neutrophil cytoplasmic autoantibodies (ANCA). These autoantibodies appear in the blood of most people with active Wegener's granulomatosis, but not all. The presence of these autoantibodies may mean you have Wegener's granulomatosis, but it isn't enough to confirm that you have the disease.
Your blood test also can measure your erythrocyte sedimentation rate — commonly referred to as a sed rate. By measuring how quickly red blood cells fall to the bottom of a tube of your blood over a period of one hour, this test may indicate the level of inflammation in your body, but it doesn't definitively diagnose Wegener's. Generally, red blood cells fall faster when inflammation is present. Your sed rate will also be measured during treatment, to check the activity of your disease.
Another blood test can check for anemia, which is common in people with this disease. A blood test for creatinine can check if your kidneys are properly filtering waste products from your blood.
Urine tests. These tests evaluate kidney function to determine whether the disease is affecting your kidneys.
Chest X-ray. This test shows cavities or masses in your lungs. However, it can't distinguish between Wegener's granulomatosis and other lung diseases.
Biopsy of affected tissue. The only sure way to confirm a diagnosis of Wegener's granulomatosis is to remove a small piece of tissue from an affected organ (biopsy) and examine it under a microscope. Your doctor may remove tissue from your nasal passages, airways or lungs to confirm or rule out the presence of both vasculitis and granulomas. Other areas for biopsy may include your skin or your kidneys. Some biopsies can be performed in an outpatient setting using a numbing medication (local anesthetic). Others, such as an open-lung biopsy, may require hospitalization.
With early diagnosis and appropriate treatment, you may recover from Wegener's granulomatosis within a few months. Maintenance therapy often needs to be continued for 18 to 24 months. In some cases, longer treatment may be necessary. Because the disease can recur, your doctor will continue monitoring your condition closely after treatment.
Your doctor may prescribe:
Corticosteroids. Medications such as prednisone help suppress the immune system and treat the early signs and symptoms of Wegener's granulomatosis.
Immune suppressant medications. Most people require another immunosuppressive drug, such as cyclophosphamide (Cytoxan), azathioprine (Azasan, Imuran) or methotrexate (Rheumatrex, Trexall), to counteract the body's immune reaction.
Biologic therapy. Rituximab (Rituxan) is approved by the Food and Drug Administration for Wegener's. It reduces the number of a type of cell in your body (B cell) involved with inflammation. Rituximab may be as effective as cyclophosphamide in treating severe cases of Wegener's, and may be even better for treating Wegener's that recurs.
When standard treatments aren't effective, some doctors who are experienced in treating Wegener's use experimental drugs. Drugs currently under investigation include mycophenolate mofetil (CellCept), infliximab (Remicade), intravenous immunoglobulin, deoxyspergualin and antithymocyte globulin.
Side effect treatments
Because of potential side effects of the drugs used to treat Wegener's, such as lowering your body's ability to fight off infection, your doctor will monitor your condition while you're taking them. Drugs your doctor may prescribe to help prevent drug-related side effects include:
Sulfamethoxazole-Trimethoprim (Bactrim, Septra) to prevent lung infection
Medicine such as bisphosphonates (Fosamax) to prevent bone loss (osteoporosis) associated with prednisone use
Folic acid, a synthetic form of the B vitamin folate, to prevent sores and other signs and symptoms associated with the depletion of folate in your body from methotrexate use
Plasmapheresis. Also known as plasma exchange, this treatment removes the liquid portion of your blood (plasma) and separates it from the blood cells. The blood cells are then put back into your body, and your body produces new plasma to make up for what was removed. In people who have very serious Wegener's granulomatosis, plasmapheresis can help the kidneys recover.
Surgery. If you've had kidney failure as a result of Wegener's granulomatosis, you may need a kidney transplant to restore normal kidney function. Talk to your doctor to determine whether a kidney transplant might be an option for you. Your eligibility to receive a donated kidney will depend, in part, on how your other organs have been affected by the disease.
With treatment, you're likely to recover from Wegener's granulomatosis. However, you may feel stress about the possibility of recurrence or about any damage the disease may cause, such as to your kidneys. Here are some suggestions for coping with the disease:
Educate yourself about Wegener's granulomatosis. The more you know, the better prepared you may be to deal with complications, the side effects of your medications or possible recurrences. Besides talking to your doctor, you may want to talk to a counselor or medical social worker. Or you may find it helpful to talk to other people with Wegener's granulomatosis.
Maintain a strong support system. Family and friends can help you as you go through the process of diagnosis and treatment. You also may find the concern and understanding of other people with Wegener's granulomatosis informative and comforting. Your doctor or a medical social worker may be able to put you in touch with a support group.