Rare Gastroenterology News

Disease Profile

Granulomatosis with polyangiitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

M31.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

GPA; WG; Wegener granulomatosis;

Categories

Blood Diseases; Kidney and Urinary Diseases; Lung Diseases;

Summary

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] 

Symptoms

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] 

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.

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

Diagnosis

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]

Treatment

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. 

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.

Organizations

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

      Learn more

      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.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference contains information on Granulomatosis with polyangiitis. This website is maintained by the National Library of Medicine.
      • 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.

          References

          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; https://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; https://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.

          Rare Gastroenterology News