What is Wegener’s granulomatosis

Wegener’s granulomatosis is an old term that is now called granulomatosis with polyangiitis. Wegener’s granulomatosis is a rare condition in which your blood vessels become inflamed. Wegener’s granulomatosis is a type of vasculitis, or inflammation of the blood vessels. Wegener’s granulomatosis involves the small and medium-sized blood vessels throughout your body. The inflammation in the blood vessel does not allow blood to flow properly to important organs, so the cells do not get the oxygen they need causing damage. This causes tissue injury called granulomatous inflammation. A granuloma is a type of cellular inflammation that can usually be seen on biopsies of affected organs. Granulomas can destroy normal tissue, and narrowed blood vessels reduce the amount of blood and oxygen that reaches your body’s tissues and organs. Wegener’s granulomatosis can affect any organ (e.g., joints, nerves and other organs), but it mainly affects your ears, nose, sinuses, trachea (windpipe), lungs, and kidneys. Anyone can get Wegener’s granulomatosis, including children, but it’s most common in middle-aged or older people. Men and women are equally affected. Wegener’s granulomatosis is more common in whites.

The cause of Wegener’s granulomatosis is not known.

Wegener’s granulomatosis symptoms can develop over days to months. The first symptoms generally appear in your respiratory tract (e.g., nose, sinuses, and lungs). Wegener’s granulomatosis symptoms include nasal congestion, frequent nosebleeds, shortness of breath, cold symptoms such as a runny nose that doesn’t get better and cough that may produce bloody phlegm. Other early symptoms can include joint pain, weakness, tiredness, decreased hearing, skin rashes, eye redness and/or vision changes, fatigue, fever, appetite and weight loss, night sweats, and numbness or loss of movement in the fingers, toes, or limbs.

Doctors use blood tests, chest X-rays, and biopsies to diagnose Wegener’s granulomatosis and rule out other causes of the symptoms.

Early treatment is important. If not treated quickly and aggressively, organ tissue can be damaged, sometimes permanently. Most people improve with medicines to slow or stop the inflammation.

Active Wegener’s granulomatosis causes inflammation within the blood vessels and organs. Ongoing inflammation in the blood vessels or organs can cause organ failure. Without treatment, Wegener’s granulomatosis can worsen rapidly, leading to potentially life-threatening kidney or lung failure. Treatment choices are based on the organs affected, disease severity, and individual medical factors.

Those with active severe disease often receive a glucocorticoid (steroid) medication such as prednisone combined with cyclophosphamide (Cytoxan), a chemotherapy type of medication. Prednisone is started at a high dose and gradually reduced over weeks to months. Cyclophosphamide is given for three – six months; it can be given orally or by injection. Those who improve are then switched to another medication such as methotrexate (Rheumatrex, Trexall) or azathioprine (Imuran, Azasan) for two or more years.

Another option for the treatment of severe granulomatosis with polyangiitis (Wegener’s granulomatosis) is rituximab (Rituxan) combined with glucocorticoids. Rituximab is a medication, given by injecting into the vein, which stops the blood vessel and organ inflammation. The patient and his/her doctor will work together to decide which treatment will be best for the patient. Those with less active disease may be treated with prednisone and methotrexate. Each medication has potential side effects, which need to be considered as part of the treatment plan.

Important facts

• Wegener’s granulomatosis (granulomatosis with polyangiitis) is serious but treatable. To prevent complications, prompt diagnosis and treatment are essential.
• The cause of Wegener’s granulomatosis is unknown.
• Wegener’s granulomatosis often affects your sinuses, ears, nose, lungs, and kidneys. Wegener’s granulomatosis can lead to kidney failure if not treated.
• With early diagnosis and appropriate treatment, you might recover from Wegener’s granulomatosis (granulomatosis with polyangiitis) within a few months. Treatment might involve taking prescription drugs long term to prevent relapse.
• Recurrences of Wegener’s granulomatosis disease is common.
• Significant side effects of medications used to treat Wegener’s granulomatosis can be minimized with preventive strategies.
• 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.

Who gets Wegener’s granulomatosis?

This rare disease is estimated to affect 3 out of every 100,000 people. It affects men and women equally. Wegener’s granulomatosis can occur at any age, but most often between the ages of 40 and 65. It is rare in children.

Wegener’s granulomatosis causes

The exact cause of Wegener’s granulomatosis is unknown. Wegener’s granulomatosis is thought to be due to something going wrong with your immune system, which makes it attack and inflame your blood vessels. But it’s not clear why this happens.

Wegener’s granulomatosis is not contagious, and there’s no evidence that it’s inherited.

It’s likely that people with Wegener’s granulomatosis have a gene that makes them more likely to get the condition. It might then be triggered by something like a virus or bacterial infection, although this hasn’t been proven.

Genes alone aren’t responsible for Wegener’s granulomatosis, as it’s very unusual for it to occur in two people in the same family.

Risk factors for Wegener’s granulomatosis

Wegener’s granulomatosis can occur at any age. It most often affects people between the ages of 40 and 65.

Wegener’s granulomatosis symptoms

Wegener’s granulomatosis can cause a range of symptoms depending on which parts of your body are affected.

Signs and symptoms of Wegener’s granulomatosis 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 Wegener’s granulomatosis might include:

• General symptoms such as tiredness, a high temperature (fever), weakness, loss of appetite, weight loss and joint pain
• Ear, nose and throat problems such as a blocked or runny nose, nosebleeds, crusts around the nostrils, face pain (sinusitis), earache and hearing loss
• Pus-like drainage with crusts from your nose, stuffiness, sinus infections and nosebleeds
• Lung problems such as a cough (sometimes with bloody phlegm) that doesn’t go away, shortness of breath, wheezing and chest pain
• Kidney problems such as blood in urine, high blood pressure and inflammation of the kidneys (glomerulonephritis)
• Skin problems such as rashes, lumps and small purple spots
• Eye problems such as irritated eyes (conjunctivitis), swollen eyelids and double vision
• Gut problems such as tummy pain, diarrhea and blood in poop
• Numbness in your limbs, fingers or toes

For some people, Wegener’s granulomatosis disease affects only the lungs. When the kidneys are affected, blood and urine tests can detect the problem. If it’s not treated, Wegener’s granulomatosis can cause permanent damage to some parts of your body. For example, Wegener’s granulomatosis can change the shape of your nose or stop your lungs or kidneys from working properly.

Wegener’s granulomatosis complications

Complications most often occur when the disease is not treated. Besides affecting your nose, sinuses, throat, lungs and kidneys, Wegener’s granulomatosis can affect your skin, eyes, ears, heart and other organs.

People with Wegener’s granulomatosis often develop tissue damage in their lungs, airways, and their kidneys. Kidney involvement may result in blood in the urine and kidney failure. Kidney disease can quickly get worse. If untreated, kidney failure and possibly death occur in most cases. Kidney function may not improve even when the condition is controlled by medicines.

Other 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
• Eye swelling
• Lung failure
• Coughing up blood
• Nasal septum perforation (hole inside the nose)
• Side effects from medicines used to treat the Wegener’s granulomatosis disease

Wegener’s granulomatosis diagnosis

Wegener’s granulomatosis can be hard to diagnose. Wegener’s granulomatosis causes a range of symptoms and they are often similar to those of more common conditions.

There is not one test for diagnosing Wegener’s granulomatosis.

A specialist doctor may need to do several checks and tests before they can diagnose Wegener’s granulomatosis.

This may involve:

• asking about your symptoms and examining the affected parts of your body
• a urine test to check how well your kidneys are working
• a blood test to look for substances called ANCAs (antineutrophil cytoplasmic antibodies), which are thought to be involved in Wegener’s granulomatosis
• removing a small sample of tissue from an affected area (a biopsy) and checking it for signs of inflammation
• an X-ray, CT (computerised tomography) scan or MRI (magnetic resonance imaging) scan to look at affected parts of the body

Many things play an important role in diagnosing Wegener’s granulomatosis, including: symptoms, physical examination, laboratory testing and imaging studies such as X-rays, CT scans, or MRI. If the doctor suspects Wegener’s granulomatosis, he/she may order a urinalysis and blood test to measure kidney function (creatinine) and lung imaging through a chest X-ray or CT scan.

The diagnosis of Wegener’s granulomatosis is based on the all the results of the blood tests, X-rays and CT findings, and physical exam findings. Most physicians will recommend a biopsy of the tissues involved.

A biopsy is sometimes needed to confirm the diagnosis and determine how severe the disease is. A kidney biopsy is most commonly done. You may have one of the following:

• Nasal mucosal biopsy
• Open lung biopsy
• Skin biopsy
• Upper airway biopsy

The most common blood test is an antibody test called ANCA (anti-neutrophil cytoplasmic antibody). This test checks for this antibody in your bloodstream. A blood test positive for ANCA supports the need for further examination for Wegener’s granulomatosis. A positive test does not confirm a diagnosis. A tissue biopsy may still be needed. A negative test does not rule out Wegener’s granulomatosis. Up to 20% of people with Wegener’s granulomatosis can have a negative ANCA test.

Wegener’s granulomatosis prognosis

Wegener’s granulomatosis can be very serious but, with medication, most people can keep it under control and live largely normal lives.

• Without treatment, people with severe forms of Wegener’s granulomatosis disease can die within a few months.
• With treatment, the outlook for most Wegener’s granulomatosis patients is good. Most people who receive corticosteroids and other medicines that slow the immune response get much better.
• Wegener’s granulomatosis disease may return about half the time. Wegener’s granulomatosis often comes back within 2 years of stopping treatment, so ongoing follow-up and possibly treatment are needed.

The impact of Wegener’s granulomatosis can vary greatly, depending on its severity, the organs involved, and any complications related to the disease or its treatment. People with Wegener’s granulomatosis need ongoing checkups that include laboratory studies, imaging tests, and clinic visits with their doctor. Follow-up monitoring is very important for patients with Wegener’s granulomatosis. It is important for the doctor to look for signs of disease recurrence, and look for and prevent short or long-term treatment-related complications.

Even with effective treatment, recurrences (relapses) are common. Relapses may resemble or differ from the initial onset, so new symptoms should be reported to the medical practitioner as soon as possible. Regular doctor visits together with monitoring of laboratory tests and imaging studies can help to detect relapses early.

Depending on the organ sites involved, patients with Wegener’s granulomatosis frequently require care from several specialists, each of whom contributes in a valuable way. Within this team of doctors, however, it remains important to find a lead doctor to prescribe and check for problems with related medications. This is typically done by the rheumatologist, who is trained to use these medications to effectively treat Wegener’s granulomatosis while minimizing the potential for side effects.

Wegener’s granulomatosis treatment

Wegener’s granulomatosis is thought to be caused by a problem with your immune system. It’s treated with medicines that reduce the activity of the immune system.

Wegener’s granulomatosis treatment involves three main stages.

1) Bringing the condition under control

Treatment first aims to bring the symptoms of Wegener’s granulomatosis under control. This usually involves:

• having injections of a medicine called cyclophosphamide every two or three weeks, or taking it as tablets every day (occasionally, other medicines – such as methotrexate, mycophenolate mofetil or rituximab – may be used instead)
• taking steroid tablets every day or having steroid injections into your blood at the same time as the cyclophosphamide injections

You will probably be treated glucocorticoids (such as prednisone). These are given along with other medicines that slow down the immune response.

Medicines used with prednisone to treat Wegener’s granulomatosis include:

• Rituximab (Rituxan)
• Cyclophosphamide (Cytoxan)
• Methotrexate
• Azathioprine (Imuran)
• Mycophenolate

These medicines all powerful medicines and are effective in severe disease, but they may cause serious side effects. Talk to your doctor about your treatment plan and make sure you discuss the possible side effects. 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.

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.

Other medicines used for Wegener’s granulomatosis include:

• Medicines to prevent bone loss caused by prednisone
• Folic acid or folinic acid, if you are taking methotrexate
• Antibiotics to prevent lung infections

Some people also need to have a plasma exchange also known as plasmapheresis, where a machine is used to filter your blood to remove the harmful antibodies linked to Wegener’s granulomatosis. 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 Wegener’s granulomatosis, plasmapheresis can help their kidneys recover.

This first stage of treatment lasts until your symptoms are under control, which usually takes a few months.

2) Keeping the condition under control

Once your condition is under control, the treatment aims to stop your symptoms coming back. This usually involves:

• stopping treatment with cyclophosphamide
• taking tablets of a less powerful medicine that dampens the immune system, such as methotrexate or azathioprine
• taking steroid tablets every day

This stage of treatment typically lasts between two and five years.

3) Treating symptoms if they come back

If your symptoms come back or you get new symptoms (a relapse) at any point, your treatment may be changed or restarted.

For example, your dose of steroids may be increased, and you may need to have more cyclophosphamide injections, start treatment with rituximab or possibly have a course of plasma exchange.

Living with Wegener’s granulomatosis

Wegener’s granulomatosis is a serious condition but, with treatment, it can usually be kept under control.

Most people can lead largely normal lives, although you might need to take medication for several years and you’ll have regular check-ups to monitor your condition in case your symptoms come back.

About half of people with Wegener’s granulomatosis have a relapse within a few years of their treatment stopping. Further treatment can help bring the condition back under control if this happens.

If Wegener’s granulomatosis is severe or isn’t treated quickly, there is a risk that life-threatening problems could develop, such as permanent damage to the kidneys that may require a kidney transplant.

This is why it’s important to contact your doctor as soon as possible if your symptoms come back or you start getting new ones.