Granulomatosis with polyangiitis

Granulomatosis with polyangiitis (GPA) is a rare disease that causes swelling, also called inflammation, of small blood vessels. This condition mainly affects blood vessels in the nose, sinuses, throat, lungs and kidneys. But it can affect any organ.

GPA used to be called Wegener granulomatosis. It's one of a group of blood vessel diseases called vasculitis. GPA slows blood flow to some organs. The affected tissues can develop inflamed areas called granulomas. Granulomas can damage these organs and affect how they work.

Symptoms of GPA vary. At first, the symptoms can seem like those of a cold. Other symptoms depend on which organs the disease affects. The cause of GPA isn't clear, but the immune system may play a role.

It's important for healthcare professionals to find and treat GPA as soon as possible. Early treatment can help people live full lives. Without treatment, the condition can lead to organ damage that sometimes is fatal.

Symptoms of granulomatosis with polyangiitis (GPA) can vary widely from person to person. Symptoms can start quickly, or they can develop over months.

Early on, GPA can cause general symptoms such as:

• Fever.
• Tiredness and not feeling well, also called malaise.
• Weight loss without a clear reason for it.
• Muscle aches and pain.
• Joint stiffness.

Specific symptoms depend on what parts of the body GPA affects.

Ear, nose and throat symptoms

If GPA affects the ears, nose or throat, symptoms can include:

• Pus-like drainage with crusts from the nose.
• Sores in the nose or mouth.
• Stuffiness.
• Sinus infections.
• Nosebleeds.
• Earaches or fluid that drains from the ear.
• Inflammation of the cartilage of the ears or bridge of the nose.

Lung and windpipe symptoms

If GPA affects the lungs or windpipe, symptoms can include:

• Coughing, sometimes with bloody phlegm.
• Shortness of breath or wheezing.
• A high-pitched breathing sound called stridor.
• Hoarse voice.

For some people, the disease affects only the lungs. Without treatment, GPA can lead to lung bleeding and scarring over time.

Kidney symptoms

If GPA affects the kidneys, you might not have symptoms. Or you might have symptoms such as:

• High blood pressure.
• Leg swelling.
• Blood in the urine.

Eye symptoms

If GPA affects the eyes, symptoms can include:

• Eye redness.
• Eye burning or pain.
• Feeling of something being stuck in the eye.
• Blurry vision or double vision.
• Bulging of the eyes.
• Swelling of the eyelids.

Other symptoms

Other symptoms of GPA can include:

• Loss of feeling, tingling, or deep aching in the limbs, fingers or toes due to nerve damage.
• Skin rashes such as purple patches or spots that may be harder to see on Black or brown skin.
• Digestive issues including stomach pain, diarrhea and bloody stool.

When to see a doctor

GPA symptoms can seem like those of some other health conditions. Early symptoms may feel like a cold or flu and can last for weeks or longer. See your healthcare professional if you have a runny nose that doesn't get better with cold medicines. Be sure to get a healthcare checkup if you have a runny nose along with:

• Nosebleeds and pus-like fluid.
• Bloody cough.
• Any other symptoms of granulomatosis with polyangiitis.

The disease can become worse quickly. Without treatment, it can lead to other serious health conditions called complications. That's why it's important for a healthcare professional to find it and start treatment early.

The exact cause of granulomatosis with polyangiitis (GPA) isn't clear. The immune system may play a role. Some white blood cells may not function as they should, and they may be involved in the disease. The immune system makes proteins called antibodies that protect the body from germs such as viruses and bacteria. GPA has been linked with the presence of certain antibodies that attack healthy cells by mistake.

The condition can lead to inflamed, narrowed blood vessels and harmful, inflamed tissue masses called granulomas. Granulomas can destroy healthy tissue. And narrowed blood vessels lower the amount of blood and oxygen that reaches tissues and organs.

GPA doesn't spread from person to person. And it likely doesn't pass from parents to children through genes.

Age is a risk factor for granulomatosis with polyangiitis. Most often, the disease affects people between the ages of 40 and 65. But it can happen at any age.

Granulomatosis with polyangiitis (GPA) can lead to other health conditions called complications. The complications depend on which organs or body parts the disease affects. They can include:

• Hearing loss.
• A loss of height in the bridge of the nose caused by weakened cartilage.
• Skin sores or scarring.
• Kidney damage or kidney failure.
• Bleeding and scarring of the lungs.
• A blood clot that forms in one or more deep veins, usually in the leg.
• Heart conditions such as swelling of the sac that surrounds the heart.
• Rarely, stroke or vision loss.

Diagnosis involves the steps that your healthcare team takes to find out if you have granulomatosis with polyangiitis (GPA). Your healthcare professional asks you about your symptoms and health history. You also get a physical exam. You may need other tests as well.

Lab tests

Blood tests can check for:

• Signs of the inflammation that GPA causes. A high level of a protein made by the liver, called C-reactive protein, can be a clue for inflammation. So can red blood cells that quickly sink to the bottom of a test tube. This measurement is known as a high erythrocyte sedimentation rate, also called a high sed rate.
• Antineutrophil cytoplasmic antibodies. These immune system proteins attack healthy white blood cells called neutrophils by mistake. The antibodies appear in the blood of most people who have GPA.
• Low levels of healthy red blood cells to carry oxygen. This is called anemia, and it's common in people with GPA.
• Symptoms that the kidneys aren't properly filtering waste products from the blood.

Urine tests can reveal if the urine has red blood cells or too much protein. These might mean that the disease is affecting the kidneys.

Imaging tests

If you have lung symptoms, chest X-rays and CT scans can help find out if granulomatosis with polyangiitis is the cause. CT scans use X-rays and a computer to make more-detailed images of the organs inside the body. CT scans also can help find out if granulomatosis with polyangiitis is the cause of head or neck symptoms. Once a person starts treatment for GPA, healthcare professionals can use CT scans to find out if treatment is working.

Biopsy

During a biopsy, a healthcare professional removes a small sample of tissue from the affected area of the body. For example, a tissue sample could be taken from the lungs, skin, kidneys or inside of the nose. The tissue sample is checked with a microscope to look for signs of inflammation or damage. This test can confirm if you have granulomatosis with polyangiitis.

Treatment for granulomatosis with polyangiitis (GPA) includes medicines to get the disease under control and keep it from coming back. Along with getting care from your regular healthcare professional, you'll likely need treatment and follow-up care from various specialists. The specialists that you need depend on the organs that the disease affects. With early treatment, many people who have GPA get better and lead full lives.

Medications

Medicines called corticosteroids help lessen the immune system response and lower inflammation of the blood vessels. Common side effects include weight gain, risk of infection and thinning of bones.

Other medicines that lessen the immune system response include:

• Rituximab (Rituxan).
• Azathioprine (Azasan, Imuran).
• Mycophenolate (CellCept, Myhibbin).
• Methotrexate (Trexall).
• Cyclophosphamide.
• Avacopan (Tavneos).

Once your condition is under control, you might stay on some medicines long-term. You might hear your healthcare professional call this maintenance therapy. The goal with long-term treatment is to prevent GPA from coming back, also called relapse. Medicines that can be used long-term include rituximab, methotrexate, azathioprine and mycophenolate.

Medicines such as these can raise the risk of infection. Cyclophosphamide can cause upset stomach, diarrhea and hair loss. Your healthcare professional may prescribe other medicines to help prevent side effects from prescribed treatments.

Plasma exchange

Plasma exchange removes the liquid portion of blood, called plasma. In most people with GPA, plasma has proteins in it that are linked with the disease. During plasma exchange, you receive fresh plasma or a protein made by the liver called albumin. Albumin helps the body make new plasma. Sometimes, plasma exchange is used to treat people who have very serious GPA. It can help the kidneys get better. Another name for this treatment is plasmapheresis.

You're likely to get better after treatment for granulomatosis with polyangiitis (GPA). Even so, you might feel stress about the disease coming back or the damage it can cause. Here are some tips to help you cope:

• Understand your condition. Learn all that you can about GPA. The knowledge may help you deal with complications, medicine side effects and relapses. Talk with your healthcare professional. You also might want to talk with a counselor or a medical social worker.
• Build a strong support system. Family and friends can help you cope. And you might find it helpful and comforting to talk with other people who are living with the condition. Ask a member of your healthcare team about how to connect with a support group.

You're likely to start by seeing your usual healthcare professional. You also might be referred to a specialist such as:

• A doctor called a rheumatologist who treats conditions of the joints, muscles, and immune system.
• A doctor called a pulmonologist who treats lung conditions.
• A doctor called an otolaryngologists who treats ear, nose, and throat conditions.
• A kidney doctor called a nephrologist.
• A doctor called a neurologist who treats conditions of the nervous system.

A specialist likely will be the one to find out if you have granulomatosis with polyangiitis.

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

What you can do

Be aware of any rules to follow before your healthcare checkup. When you make the appointment, ask if you need to do anything in advance. For instance, you may be told to limit your diet.

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

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

Before your appointment, also make a list of:

• Your symptoms and when they began.
• Key personal medical information, including other recent health conditions and major stresses you've had.
• Medicines, vitamins and supplements you take, including doses.
• Questions to ask your healthcare professional.

Take a family member or friend with you to the appointment if you can. This person can help you remember the information you receive.

For granulomatosis with polyangiitis, questions to ask your healthcare team 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 short-term or long-term?
• What treatment do you recommend?
• Are there any treatment choices aside from the main treatment that you're suggesting?
• How long will treatment last?
• I have another medical condition. How can I best manage my 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 healthcare professional is likely to ask questions such as:

• Do your symptoms happen often or just once in a while?
• How bad are your symptoms?
• Have you had a fever?
• What, if anything, seems to make your symptoms better?
• What, if anything, appears to make your symptoms worse?
• Do you smoke?

What you can do in the meantime

If your symptoms are getting worse, tell your main healthcare professional. That way, your healthcare professional can try to get you to a specialist quickly.