Symptoms

Signs and symptoms of Wegener's granulomatosis may develop suddenly or gradually.

The first Wegener's granulomatosis symptoms usually involve your respiratory tract. 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
• Nosebleeds
• Sinus pain and inflammation (sinusitis)
• Hoarse voice
• Inflammation of the gums
• Ear infections
• Cough
• Chest pain
• Coughing up blood (hemoptysis)
• Shortness of breath
• Wheezing
• General ill feeling (malaise)
• Unintended weight loss
• Joint aches and swelling
• Blood in urine (hematuria)
• Skin sores
• Eye redness, burning or pain
• Double or decreased vision
• Fever
• Weakness and fatigue, possibly associated with low red blood cell count (anemia)

For some people, the disease is limited to the respiratory tract 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, with its associated anemia, often occurs.

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 progress quickly, early diagnosis is critical to receiving effective treatment.

Causes

The cause of Wegener's granulomatosis is unknown, but it appears to develop as a result of an initial inflammation-causing event that 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). Scientists speculate that the triggering event may be an infection, but no specific infection has been identified as the cause.

Risk factors

The onset of Wegener's granulomatosis can occur at any age, but it most often occurs in middle age, with an average onset at age 40. Whites are more likely than blacks to develop Wegener's granulomatosis.

Complications

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.
• 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.

Preparing for your appointment

You're likely to start by seeing your primary care doctor. However, you may be referred to a specialist in the predominant organ of involvement, 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 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, as well as any 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.
• 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 or will I always have it?
• 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?
• Have your symptoms been continuous or occasional?
• 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 expedite a referral to a specialist.

Tests and diagnosis

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 may 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 90 to 95 percent of people with active Wegener's granulomatosis. The presence of these autoantibodies lends support to a diagnosis of 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 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. 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 assess 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.

Treatment and drugs

With early diagnosis and appropriate treatment, you may recover from Wegener's granulomatosis within a few months. In some cases, longer treatment may be necessary. Because the disease can recur, your doctor will continue monitoring your condition after treatment.

Medications 
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 (Imuran) or methotrexate (Rheumatrex), to counteract the body's immune reaction.

When standard treatments aren't effective, some doctors who are experienced in treating Wegener's use experimental drugs. One such drug is rituximab (Rituxan). It reduces the number of a type of cell in your body (B cell) involved with inflammation. The most recent research suggests that 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.

Side effect treatments 
Because of potential side effects of the drugs used to treat Wegener's, such as hampering 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:

• Trimethoprim-sulfamethoxazole (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

Surgery 
If you've had kidney failure as a result of Wegener's granulomatosis, you may consider a kidney transplant to restore normal kidney function. A successful transplant depends on finding an organ that minimizes the chances your body will reject it and following a treatment plan that will allow your body to accept the new organ.

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 on how your other organs have been affected by the disease.

Coping and support

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 may also 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.