National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Granulomatosis with polyangiitis

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Other Names:
GPA; WG; Wegener granulomatosis; GPA; WG; Wegener granulomatosis; Midline granulomatosis See More
Categories:
This disease is grouped under:
Granulomatosis with polyangiitis (GPA) is a type of vasculitis or swelling (inflammation) of the blood vessels. The disease can cause swelling of the blood vessels anywhere in the body but mainly impacts the sinuses, nose, trachea (windpipe), lungs, and kidneys. The swelling can limit the flow of blood to these body parts, causing damage. Symptoms of the disease can include sinus pain, recurrent respiratory infections, joint pain, tiredness (fatigue), and skin lesions.[1][2]

The exact cause of GPA is unknown, but it is a type of autoimmune disease. Diagnosis of GPA can be made with laboratory tests such as a blood test, biopsy of affected areas, and imaging of the lungs. Treatment of GPA often includes medications such as glucocorticoids and immunosuppressants.[1] 
Last updated: 1/14/2018
Granulomatosis with polyangiitis (GPA) can affect the blood vessels in any part of the body, but the most commonly affected areas include the sinuses, trachea, lungs, and kidneys. Granulomatosis with polyangiitis is the term used to describe this disease because people with this disease may have granulomas, which are areas of swelling that contain cells of the immune system. These granulomas are especially common in the lungs and airways of people with GPA. The term “polyangiitis” refers to swelling of many different types of blood vessels.[3] 

The first sign of GPA may be a recurrent respiratory infection, or a cough or runny nose that continues for longer than expected.[2] Other common symptoms of the disease include nosebleeds, joint pain, weakness, tiredness (fatigue), weight loss, or an unexplained fever.[4] In some cases, the disease can cause the bridge of the nose to collapse, resulting in a saddle-nose deformity. Some people with GPA may have blood in the urine, chest pain, or skin lesions. If the disease is not treated, symptoms can progress to include kidney failure.[1][2] More rarely, people with GPA may have symptoms affecting the eyes such as a recurrent eye infection or swelling of the eyes.[2] Most people who have GPA start to have signs and symptoms of the disease in adulthood. The disease is most common in people of northern European descent.[2] 
Last updated: 1/14/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal oral cavity morphology
Abnormality of the oral cavity
0000163
Arthralgia
Joint pain
0002829
Autoimmunity
Autoimmune disease
Autoimmune disorder
[ more ] 		0002960
Cerebral ischemia
Disruption of blood oxygen supply to brain
0002637
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fever 0001945
Glomerulopathy 0100820
Granulomatosis 0002955
Hematuria
Blood in urine
0000790
Pulmonary infiltrates
Lung infiltrates
0002113
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Sinusitis
Sinus inflammation
0000246
Vasculitis
Inflammation of blood vessel
0002633
Weight loss 0001824
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormality of the hypothalamus-pituitary axis 0000864
Chest pain 0100749
Chronic pulmonary obstruction 0006510
Cough
Coughing
0012735
Elevated C-reactive protein level 0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Hemoptysis
Coughing up blood
0002105
Inflammatory abnormality of the eye 0100533
Nausea and vomiting 0002017
Papule 0200034
Periorbital edema 0100539
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Pulmonary fibrosis 0002206
Recurrent intrapulmonary hemorrhage
Recurrent bleeding into lungs
0006535
Respiratory insufficiency
Respiratory impairment
0002093
Skin rash 0000988
5%-29% of people have these symptoms
Angina pectoris 0001681
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Chronic otitis media
Chronic infections of the middle ear
0000389
Cranial nerve paralysis 0006824
Diabetes insipidus 0000873
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Headache
Headaches
0002315
Hemiplegia
Paralysis on one side of body
0002301
Hydronephrosis 0000126
Hypertension 0000822
Intestinal obstruction
Bowel obstruction
Intestinal blockage
[ more ] 		0005214
Meningitis 0001287
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Pancreatitis
Pancreatic inflammation
0001733
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Prostatitis
Inflammation of the prostate
0000024
Purpura
Red or purple spots on the skin
0000979
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Retinopathy
Noninflammatory retina disease
0000488
Seizure 0001250
Sensorineural hearing impairment 0000407
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Skin ulcer
Open skin sore
0200042
Ureteral stenosis
Narrowing of the ureter
0000071
Venous thrombosis
Blood clot in vein
0004936
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Percent of people who have these symptoms is not available through HPO
Cytoplasmic antineutrophil antibody positivity 0032230
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Last updated: 7/1/2020
The exact cause of granulomatosis with polyangiitis (GPA) is not well-understood. It is thought that GPA is an autoimmune disease. Autoimmune diseases occur when the immune system, which is responsible for protecting the body from infection, mistakenly attacks tissues of the body. The immune system is supposed to release disease-fighting proteins called antibodies that attack potential sources of infection. People who have GPA frequently have specific antibodies called antineutrophil cytoplasmic antibodies (ANCA). These antibodies cause the immune system to attack the blood vessels. This causes swelling (inflammation) of blood vessels, which causes the signs and symptoms of GPA.[1][2]

Exactly what causes the immune system to mistakenly attack the blood vessels is not clear. In general, it is thought that autoimmune diseases are caused by a combination of being born with an increased likelihood to develop the disease (genetic predisposition) as well as exposure to environmental factors. It is not known exactly what environmental factors may be associated with GPA, but it may be that having a previous infection can increase the risk to develop the disease.[2]
Last updated: 1/14/2018
Changes (also known as pathogenic variants or mutations) in a particular gene are not known to be associated with granulomatosis with polyangiitis (GPA). In most cases, a person who has GPA is the only person in his or her family who has the disease. Therefore, it is not thought that GPA is passed directly from parent to child.[3]

In some cases, instances of multiple people within the same family having GPA have been reported. It is thought that these cases may be caused by family members having normal variants in certain genes, such as the HLA-DPB1 gene, that increase the risk to develop GPA.[5] However, having these normal variants does not guarantee that a person will develop GPA. It is thought that genetic changes in combination with environmental factors cause most cases of the disease.[3]
Last updated: 1/14/2018
Granulomatosis with polyangiitis (GPA) is suspected when a doctor observes signs and symptoms that are consistent with the disease. These signs and symptoms often include a recurrent respiratory infection, tiredness (fatigue), weight loss, and unexplained fevers.[2] Laboratory tests may then be ordered to confirm the diagnosis and rule out other causes of the symptoms. These tests may include:[2]
Although none of these tests can be used by themselves to determine if a person has GPA, the tests can be used together to support a diagnosis of the disease. If GPA is suspected, a biopsy (removing a small piece of tissue) can be done to determine if the tissue shows granulomatosis (inflammation involving the immune cells) and vasculitis (swelling of the blood vessels). The part of the body from which a biopsy is taken is most commonly the lungs, sinuses, or kidneys.[2]

Once a diagnosis of GPA has been confirmed, further tests may be necessary to determine if other parts of the body are affected. Tests of kidney or lung function may be completed, and an eye exam may be recommended.[2]
Last updated: 1/14/2018
The treatment for granulomatosis with polyangiitis (GPA) usually includes a combination of multiple medications. These medications typically include:[2]
If there are skin lesions present, they may be treated with a topical steroid that is applied to the affected area.[5] Surgery may be recommended if swelling of the airway or lungs is preventing normal breathing.[2]

Other medications may be recommended to help treat GPA. These medications are often used to treat the side-effects that may be associated with glucocorticoids and immunosuppressive drugs and may include:[2]
  • Bisphosphonate to prevent bone weakening that can be caused by prednisone
  • Antibiotics to prevent lung infections
Medscape Reference also provides information about the treatment of GPA, including a section detailing alternative and/or promising therapies. 
Last updated: 1/14/2018

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

The long-term outlook for people with granulomatosis with polyangiitis (GPA) may depend on how early an individual is diagnosed with the disease after the onset of symptoms, the severity of symptoms, and the response to treatment. For most people, the symptoms of GPA improve with treatment.[1][2] In cases where a person has severe GPA that is not diagnosed or treated, there is a very high risk of death that can be caused by infection, respiratory failure (when too little oxygen passes from the lungs to the blood), kidney failure, and damage to the heart.[2]

Most people with GPA receive treatment for about 18 months after they begin to recover from the disease. Receiving treatment for this length of time is aimed at preventing the symptoms from returning (relapse). However, about half of people with GPA may experience a return of the disease.[1][2] This usually occurs within two years of stopping treatment. Therefore, it is extremely important that people with GPA continue to see their healthcare professionals regularly, both while receiving treatment and after stopping the medications.[2]

After starting treatment for GPA, most people notice that their symptoms improve. However, the medications that help treat GPA can also cause serious side-effects such as bone weakening and having an immune system that is less able to fight off infection. Doctors may recommend additional medications that can help treat these side-effects.[2]
Last updated: 1/14/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other ANCA-associated vasculitides such as microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Granulomatosis with polyangiitis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Vasculitis Clinical Research Consortium (VCRC) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in different forms of vasculitis. The VCRC has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the VCRC research projects.

    For more information on the registry see: https://www.rarediseasesnetwork.org/cms/vcrc/About-Us

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet New Zealand is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference contains information on Granulomatosis with polyangiitis. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Granulomatosis with polyangiitis.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Granulomatosis with polyangiitis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Starkebaum GA. Granulomatosis with polyangiitis. MedlinePlus. January 20, 2015; https://medlineplus.gov/ency/article/000135.htm.
  2. Tracy CL and Papadopoulos PJ. Granulomatosis with Polyangiitis (Wegener Granulomatosis). Medscape Reference. December 2, 2017; http://emedicine.medscape.com/article/332622-overview.
  3. Granulomatosis with polyangiitis. Genetics Home Reference. July 2013; https://ghr.nlm.nih.gov/condition/granulomatosis-with-polyangiitis.
  4. Gota CE. Granulomatosis with Polyangiitis (Wegener Granulomatosis). Merck Manual Consumer Version. 1/5/2018; http://www.merckmanuals.com/home/bone,-joint,-and-muscle-disorders/vasculitic-disorders/granulomatosis-with-polyangiitis.
  5. Sinovich V and Oakley A. Granulomatosis with polyangiitis. DermNet New Zealand. January 2016; https://www.dermnetnz.org/topics/granulomatosis-with-polyangiitis/.
  6. Wegener Granulomatosis. Online Mendelian Inheritance in Man. December 8, 2014; https://www.omim.org/entry/608710.