Granulomatosis with polyangiitis

Overview

Granulomatosis with polyangiitis is an uncommon disorder that causes inflammation of the blood vessels in your nose, sinuses, throat, lungs and kidneys.

Formerly called Wegener's granulomatosis, this condition is one of a group of blood vessel disorders called vasculitis. It slows blood flow to some of your organs. The affected tissues can develop areas of inflammation called granulomas, which can affect how these organs work.

Early diagnosis and treatment of granulomatosis with polyangiitis might lead to a full recovery. Without treatment, the condition can be fatal.

Symptoms

Signs and symptoms of granulomatosis with polyangiitis can develop suddenly or over several months. The first warning signs usually involve your sinuses, throat or lungs. The condition often worsens rapidly, affecting blood vessels and the organs they supply, such as the kidneys.

Signs and symptoms of granulomatosis with polyangiitis might include:

• Pus-like drainage with crusts from your nose, stuffiness, sinus infections and nosebleeds
• Coughing, sometimes with bloody phlegm
• Shortness of breath or wheezing
• Fever
• Fatigue
• Joint pain
• Numbness in your limbs, fingers or toes
• Weight loss
• Blood in your urine
• Skin sores, bruising or rashes
• Eye redness, burning or pain, and vision problems
• Ear inflammation and hearing problems

For some people, the disease affects only the lungs. When the kidneys are affected, blood and urine tests can detect the problem. Without treatment, kidney or lung failure can occur.

When to see a doctor

See your doctor if you have a runny nose that doesn't respond to over-the-counter cold medicines, especially if it's accompanied by nosebleeds and pus-like material, coughing up blood, or other warning signs of granulomatosis with polyangiitis. Because this disease can worsen quickly, early diagnosis is key to getting effective treatment.

Causes

The cause of granulomatosis with polyangiitis isn't known. It's not contagious, and there's no evidence that it's inherited.

The condition can lead to inflamed, narrowed blood vessels and harmful inflammatory tissue masses (granulomas). Granulomas can destroy normal tissue, and narrowed blood vessels reduce the amount of blood and oxygen that reaches your body's tissues and organs.

Risk factors

Granulomatosis with polyangiitis can occur at any age. It most often affects people between the ages of 40 and 65.

Complications

Besides affecting your nose, sinuses, throat, lungs and kidneys, granulomatosis with polyangiitis can affect your skin, eyes, ears, heart and other organs. Complications might include:

• Hearing loss
• Skin scarring
• Kidney damage
• A loss of height in the bridge of the nose (saddling) caused by weakened cartilage
• A blood clot forming in one or more deep veins, usually in your leg

Diagnosis

Your doctor will ask you about your signs and symptoms, conduct a physical exam, and take your medical history.

Lab tests

Blood tests can check for:

• Signs of inflammation, such as a high level of C-reactive protein or a high erythrocyte sedimentation rate — commonly referred to as a sed rate.
• Anti-neutrophil cytoplasmic antibodies, which appear in the blood of most people who have active granulomatosis with polyangiitis.
• Anemia, which is common in people with this disease.
• Signs that your kidneys aren’t properly filtering waste products from your blood.

Urine tests can reveal whether your urine contains red blood cells or has too much protein, which might indicate that the disease is affecting your kidneys.

Imaging tests

Chest X-rays, CT or MRI can help determine which blood vessels and organs are affected. They can also help your doctor monitor whether you're responding to treatment.

Biopsy

This is a surgical procedure in which your doctor removes a small sample of tissue from the affected area of your body. A biopsy can confirm a diagnosis of granulomatosis with polyangiitis.

Treatment

With early diagnosis and appropriate treatment, you might recover from granulomatosis with polyangiitis within a few months. Treatment might involve taking prescription drugs long term to prevent relapse. Even if you're able to stop treatment, you'll need to regularly see your doctor — and possibly several doctors, depending on which organs are affected — to monitor your condition.

Medications

Corticosteroids such as prednisone help suppress the immune system and reduce inflammation of the blood vessels. Common side effects include weight gain, risk of infection and osteoporosis.

Other drugs that suppress your immune system include cyclophosphamide, azathioprine (Azasan, Imuran), mycophenolate (CellCept) and methotrexate (Trexall). Rituximab (Rituxan) is another option for treating granulomatosis with polyangiitis. It's given by injection, and often is combined with corticosteroids.

Once your condition is controlled, you might remain on some drugs long term to prevent relapse. These include rituximab, methotrexate, azathioprine and mycophenolate.

Side effects of immune-suppressing drugs include increased risk of infection. Cyclophosphamide can cause nausea, diarrhea and hair loss. Your doctor may prescribe other drugs to help prevent side effects from prescribed treatments.

Plasma exchange

Also known as plasmapheresis, this treatment removes the liquid portion of your blood (plasma) that contains disease-producing substances. You receive fresh plasma or a protein made by the liver (albumin), which allows your body to produce new plasma. In people who have very serious granulomatosis with polyangiitis, plasmapheresis can help the kidneys recover.

Coping and support

With treatment you're likely to recover from granulomatosis with polyangiitis. Even so you might feel stress about possible relapse or damage the disease can cause. Here are some suggestions for coping:

• Understand your condition. Learning about granulomatosis with polyangiitis might help you deal with complications, medication side effects and relapses. Besides talking with your doctor, you might want to consult a counselor or a medical social worker.
• Maintain a strong support system. Family and friends can help you cope. And you might find it informative and comforting to talk with other people who are living with the condition. Ask a member of your health care team about connecting with a support group.

Preparing for an appointment

You're likely to start by seeing your primary care doctor, who then might refer you to a specialist in the lungs (pulmonologist); ear, nose and throat (otolaryngologist); kidneys (nephrologist); or bones and joints (rheumatologist). A specialist will likely be the one to diagnose you.

Here's some information to help you get ready for your appointment.

What you can do

Be aware of pre-appointment restrictions. When you make the appointment, ask if you need to do anything in advance, such as restrict your diet.

If you've had any recent blood tests or chest X-rays at another medical office or hospital, ask the staff to forward the test results and X-rays to the doctor you're seeing. Or pick up the material yourself to be sure it gets to your doctor.

Get a referral if your insurance company requires it for visits to specialists. Be sure a letter of referral has been sent to the doctor, or bring it with you.

Make a list of:

• Your symptoms and when they began
• Key personal medical information, including other recent health problems and major stresses you've had
• Medications, vitamins and supplements you take, including doses
• Questions to ask your doctor

Consider taking a family member or friend with you to the appointment to help you remember the information you receive.

For granulomatosis with polyangiitis, questions to ask your doctor include:

• What is likely causing my symptoms? What are other possible causes?
• What tests will I need? How do I prepare for them?
• Is my condition temporary?
• What treatment do you recommend?
• What are alternatives to the primary approach that you're suggesting?
• How long will treatment last?
• I have another medical condition. How can I best manage these conditions together?
• Do you have brochures or other printed materials to give me? What websites do you recommend?

What to expect from your doctor

Your doctor is likely to ask questions, including:

• Have your symptoms been continuous or occasional?
• How severe are your symptoms?
• Have you been running a fever?
• What, if anything, seems to improve your symptoms?
• What, if anything, appears to worsen your symptoms?
• Do you smoke?

What you can do in the meantime

If your symptoms are worsening, tell your primary care doctor so that he or she can try to get you to a specialist quickly.