Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is a group of rare diseases that cause inflammation in your small and medium-sized blood vessels. This inflammation can restrict blood flow and damage your organs.
AAV is a group of autoimmune disorders. With autoimmune disorders, your immune system doesn't work the way it's supposed to. Instead of fighting off germs, bacteria, or viruses, AAV causes your body to make autoantibodies. These are proteins that mistakenly attack healthy tissue in your blood cells and organs. This can damage your blood cells and affect your kidneys, skin, nerves, joints, heart, and lungs.
"These are considered rare diseases due to the uncommon nature of all forms of AAV," says Lindsay Lally, MD, a rheumatologist at the Hospital for Special Surgery in New York City. "Estimates vary and are different among the different subtypes of AAV, but generally, AAV is thought to account for around 10 cases per 1 million people."
Types of ANCA-Associated Vasculitis
There are three different types of AAV: eosinophilic granulomatosis with polyangiitis (EGPA), granulomatosis with polyangiitis (GPA), and microscopic polyangiitis (MPA).
Eosinophilic granulomatosis with polyangiitis (EGPA)
EPGA causes inflammation in your respiratory system, which can restrict blood flow and damage your tissues and organs. It often affects people who have a history of asthma or allergies. Once known as Churg-Strauss syndrome, EPGA is very rare, affecting approximately 5,000 people in the United States. It's a serious condition, but it's treatable. The right treatment can help reduce symptoms, lower the risk of serious complications, and improve your quality of life.
Granulomatosis with polyangiitis (GPA)
GPA causes inflammation in smaller blood cells. Small masses (granulomas) may form in your blood cells and organs. The inflammation can lead to blood cells swelling, breaking, and bleeding. GPA can cause issues anywhere in your body, but it especially affects your kidneys and respiratory system. It used to be known as Wegener's granulomatosis.
Microscopic polyangiitis (MPA)
MPA causes inflammation that affects small blood cells in your body and can damage your kidneys, lungs, skin, joints, and nerves. It's very similar to GPA but doesn't cause masses to form. The damage to your kidneys can be more serious with MPA, and it can cause bleeding in your lungs.
What Causes ANCA-Associated Vasculitis?
The exact cause of AAV is unknown.
"Like many of our autoimmune conditions, there is likely a genetic predisposition for several people who develop AAV, but also exposure to environmental factors that drive development of disease," Lally says.
Environmental triggers like pollutants, silica exposure, UV radiation deficiency, microbial infections, seasonal changes, medications, and vaccinations may increase the risk of AAV. Still, research is limited.
Some experts suspect people with AAV may have ANCA antibodies in their blood that trigger these diseases. But some people get AAV without antibodies in their blood, while others have antibodies and don't get AAV. More research is needed to better understand its causes.
"Some of the areas of active research focus on the genetic factors associated with the disease, why some patients have more relapses, why different subtypes target specific organs, and the role of the microbiome," says Fabian Mendoza, MD, a rheumatologist at Jefferson Health in Philadelphia.
ANCA-associated vasculitis risk factors
AAV can affect anyone. These conditions are often diagnosed between the ages of 40 and 50 and affect more men than women. Certain environmental factors like pollutants, silica exposure, UV radiation deficiency, microbial infections, seasonal changes, medications, and vaccinations may also increase the risk of AAV.
Symptoms of ANCA-Associated Vasculitis
There are lots of symptoms of AAV. These symptoms can differ, depending on the person, and may include:
- Fatigue
- Unintended weight loss
- Not feeling hungry
- Night sweating
- Fever
- Coughing or coughing up blood
- Wheezing or chest pain
- Shortness of breath
- Rashes or discolored skin
- Muscle weakness
- Pain
- Numbness or tingling
- Blood in your urine or poop
- Ear or sinus infections
How Is ANCA-Associated Vasculitis Diagnosed?
AAV is diagnosed through your health care provider. They'll listen to your symptoms and do diagnostic tests like bloodwork and imaging. Be prepared to share the symptoms you've had, including if you've noticed any activities or times of day that trigger your symptoms. Your doctor may use some combination of tests to diagnose AAV, including:
- Blood tests
- Urine tests
- Biopsies
- Imaging, such as X-rays, MRIs, or CT scans
What to expect after a diagnosis
If your doctor diagnoses you with AAV, they'll help you find the best provider for treatment. You'll probably start treatment shortly after getting your diagnosis, Mendoza says.
Questions to Ask Your Doctor
Prepare to ask your doctor about their treatment recommendations, potential long-term and short-term side effects, and how you can work together to get your AAV into remission, Lally says.
"A strong relationship between you and your treating doctors is key to optimizing health outcomes with these chronic relapsing diseases," she says.
Some possible questions to ask your doctor:
How Is ANCA-Associated Vasculitis Treated?
AAV can't be cured. But the right treatment can make a huge difference in controlling symptoms, preventing organ damage, and reducing inflammation.
"AAV is treated with medications that suppress the immune system," Lally says. "We tailor treatment to disease severity."
The most common treatments include:
- Corticosteroids, which are prescription anti-inflammatories that can also help control your immune system
- Immunosuppressants, like cyclophosphamide or rituximab, which can help calm down your immune system and get the disease into remission
Traditional treatments focus on steroids such as prednisone plus immunosuppressants such as rituximab and cyclophosphamide for remission. Maintenance treatment, on the other hand, involves azathioprine or methotrexate.
Other targeted therapies, like mepolizumab and benralizumab, are approved for EGPA, another AAV type. The goal of treatment is to get into remission. You'll probably start with a high dose of your medications to help your body fight the inflammation. Once you're in remission, your doctor will likely make changes to your medications.
"Since these are diseases that do not have a cure at this time, we tend to use strong therapy to induce remission and then enter a maintenance phase where we give patients lower doses to maintain the remission," Lally says.
Newer treatments and side effects
Avacopan (Tavneos) is a newer oral C5a receptor inhibitor used with standard treatments like immunosuppressants and steroids for severe ANCA-associated vasculitis types like GPA and MPA. It can help people with AAV achieve remission with less steroid use.
This treatment is already known to raise your risk for serious liver injury, including death. Your doctor likely monitors your symptoms and checks your liver function. Recent FDA reports found that avacopan combined with other standard medicines may also raise your risk for:
- Serious liver complications including hospitalization and death because of drug-induced liver injury (DILI)
- Damage to your bile ducts in your liver which slows down or stops the flow of bile, causing the ducts to disappear, also called vanishing bile duct syndrome (VBDS).
Don’t stop treatment, your doctor can help you decide on the next steps for your treatment plan. They can run tests and check for symptoms of bile acid build up (cholestasis) like yellow skin or eyes and itchy skin.
If your liver testing or symptoms don’t get better, your doctor can refer you to a hepatologist — a specialist that treats the liver. They can help you decide whether to continue or switch to another treatment.
Finding expert care
Since AAV can involve either one or many organs, many different doctors may play an important role in your care, Mendoza says.
"Rheumatologists, nephrologists, ENT [ear, nose, and throat] doctors, and pulmonologists are usually involved in treating this condition," he says. "Having a multidisciplinary team is key if more than one organ is involved. Usually, rheumatologists are engaged in the management of long-term immunosuppression when needed."
Getting treatment from a vasculitis center or vasculitis expert can help improve health outcomes with ANCA-associated vasculitis. Expert centers may also offer clinical trials that can help you find new therapies for AAV.
"The Vasculitis Foundation can be a great resource for finding physicians and centers with expertise in treating AAV," Lally says.
When to go to the ER
You should go to the emergency room if you have serious symptoms such as:
- Coughing blood
- Struggling to breathe
- Yellowing of your skin and eyes, or itchy skin
- Serious fatigue
- Light-colored stools, dark urine, nausea, and vomiting
- Swollen, tender, painful belly, especially the upper right
- Feeling any new, concerning symptoms
How Your Condition Might Change Over Time
If left untreated, AAV can lead to life-threatening organ damage. Your symptoms can also get worse over time, and you may develop more serious conditions, like sinus disease. That's why it's so important to monitor your condition with your care team.
What to Expect When You Have ANCA-Associated Vasculitis
Usually, your ANCA-associated vasculitis symptoms will get better once you start treatment.
"Patients should have a frank conversation with their doctor regarding what the expectations are for improvement," Mendoza says. "Taking immunosuppression consistently as instructed and having frequent testing are musts."
ANCA-Associated Vasculitis Complications
AAV can lead to serious and life-threatening organ damage, especially in your heart, kidneys, and lungs. More severe AAV can cause:
- Kidney or heart failure
- Nerve damage
- Bleeding or scarring in the lungs
Where to Find Support
It can be helpful to connect with other people who are living with AAV, and to find support and resources for managing this group of diseases.
Some organizations that may be helpful are:
- The Vasculitis Foundation
- Eosinophilic & Rare Disease Cooperative
- American Kidney Fund
- NORD (National Organization for Rare Disorders)
Caring for Your Emotional and Mental Health
It's important to take care of your emotional and mental health when living with a rare disease.
Get support for your mental health. Talking with a therapist or counselor could help you manage the mental and emotional challenges of living with a rare disease. You can also look for support groups and rare disease communities to connect with online or in your area.
Establish self-care routines. Practice things that can ease your stress and improve your daily well-being. Some strategies could include: mindfulness or mediation, getting exercise, and journaling.
Ask for help. Don't be afraid to speak up when you need to. Look to friends and family for support.
Takeaways
AAV is a group of rare diseases that cause inflammation in your small and medium-sized blood vessels. This inflammation can restrict blood flow and damage your organs. There's no cure. But the right treatment can make a huge difference in controlling symptoms, preventing organ damage, and reducing inflammation.
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis FAQs
Here are some commonly asked questions about ANCA-associated vasculitis.
How rare is ANCA-associated vasculitis?
Estimates vary for how rare AAV is, and they differ between the three subtypes of AAV. But generally, 10 cases of AAV are thought to happen per 1 million people.
Can ANCA-associated vasculitis go away?
There's no cure for ANCA-associated vasculitis. But it can go into remission for months, or even years, and you may not have any symptoms during that time.
Is ANCA-associated vasculitis progressive?
It can be. If left untreated, AAV can progress into more serious, and even life-threatening, organ damage.
What triggers ANCA-associated vasculitis?
There is no known cause of ANCA-associated vasculitis. More research is needed to know what causes it. But certain environmental or genetic factors may trigger AAV.
Can COVID cause ANCA-associated vasculitis?
We need more research to know if COVID-19 can cause ANCA-associated vasculitis. COVID can complicate treatment for ANCA-associated vasculitis. People with AAV may also face a higher risk of developing a more serious case of COVID.
