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Disease Profile

Eosinophilic 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

Adolescent

ICD-10

M30.1

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

CSS; Allergic granulomatous and angiitis; Allergic angiitis and granulomatosis;

Categories

Blood Diseases; Heart Diseases; Kidney and Urinary Diseases;

Summary

Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome) is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of eosinophilic granulomatosis with polyangiitis is unknown, but it is thought to be an autoimmune disorder.[1][2][3]

Treatment may involve the use of glucocorticoids (steroids) and/or other immunosuppressive therapies.[1][2][3] As of December 2017, mepolizumab (Nucala) became the first therapy approved specifically to treat eosinophilic granulomatosis with polyangiitis. When added to traditional steroid or immunosuppressive therapy, mepolizumab has been found to increase remission rate and time in remission for 50% of people with eosinophilic granulomatosis with polyangiitis.[4][5]

Symptoms

The specific signs and symptoms of eosinophilic granulomatosis with polyangiitis vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. Eosinophilic granulomatosis with polyangiitis is considered to have three distinct phases prodromal (allergic), eosinophilic and vasculitic which don't always occur sequentially. Some people do not develop all three phases.

  • The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms.
  • The eosinophilic phase is characterized by accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body especially the lungs, gastrointestinal tract and skin.
  • The vasculitic phase is characterized by widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm).

Depending on the organ affected in the disease, other symptoms may include:[6][7]

  • Nonspecific symptoms: Many people may have nonspecific symptoms such as fatigue, fever, weight loss, night sweats, abdominal pain, and/or joint and muscle pain. 
  • Respiratory problems: Asthma, often with onset during adulthood, occurs in most patients and is often severe. Other symptoms are sinusitis, difficult breathing, cough and coughing up of blood (hemoptysis), and transient patchy lung lesions.
  • Neurological symptoms: Neurological symptoms such as pain, tingling or numbness and are common and depend on the specific nerves involved. 
  • Skin symptoms: About half of affected people may develop skin abnormalities such as purplish skin lesions, a rash with hives, and/or small bumps (especially on the elbows) due to accumulation of eosinophils in skin tissue. 
  • Gastrointestinal symptoms: About one third of affected people present with GI symptoms (abdominal pain, diarrhea, bleeding, acalculous cholecystitis) due to eosinophilic gastroenteritis or mesenteric ischemia due to vasculitis
  • Heart problems: Heart problems may include inflammation of heart tissues (myocarditis and endomyocardial fibrosis) and in severe cases, heart failure. 
  • Muscular and bone problems: Joint pain (arthralgias), muscular pain (myalgias), or even arthritis can occur, usually during the vasculitic phase.
    Kidney problems: The kidneys are affected less often but can also become involved, eventually causing glomerulonephritis.

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
Asthma
0002099
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Central nervous system degeneration
0007009
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Eosinophilia
High blood eosinophil count
0001880
Peripheral neuropathy
0009830
Pulmonary infiltrates
Lung infiltrates
0002113
Purpura
Red or purple spots on the skin
0000979
Sinusitis
Sinus inflammation
0000246
Urticaria
Hives
0001025
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
Abnormal pericardium morphology
0001697
Abnormal pleura morphology
0002103
Arthralgia
Joint pain
0002829
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Fatigue
Tired
Tiredness

[ more ]

0012378
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hematuria
Blood in urine
0000790
Hypertension
0000822
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypopigmented skin patches
Patchy loss of skin color
0001053
Nausea and vomiting
0002017
Skin rash
0000988
Tubulointerstitial nephritis
0001970
Venous thrombosis
Blood clot in vein
0004936
5%-29% of people have these symptoms
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Arthritis
Joint inflammation
0001369
Cough
Coughing
0012735
Cranial nerve paralysis
0006824
Cutis marmorata
0000965
Endocarditis
0100584
Fever
0001945
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Glomerulopathy
0100820
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hemoptysis
Coughing up blood
0002105
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

0005214
Malabsorption
Intestinal malabsorption
0002024
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Myocardial infarction
Heart attack
0001658
Myocarditis
Inflammation of heart muscle
0012819
Myositis
Muscle inflammation
0100614
Nasal polyposis
0100582
Papule
0200034
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Recurrent intrapulmonary hemorrhage
Recurrent bleeding into lungs
0006535
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Respiratory insufficiency
Respiratory impairment
0002093
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
Transient ischemic attack
Mini stroke
0002326

Treatment

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 NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • The Mayo Clinic Web site provides further information on Eosinophilic granulomatosis with polyangiitis.
      • The Merck Manuals Online Medical Library 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 Eosinophilic 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.
        • 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 Eosinophilic granulomatosis with polyangiitis. Click on the link to view a sample search on this topic.

          References

          1. Wechsler M, Strobel MJ. Eosinophilic Granulomatosis with Polyangiitis (aka Churg-Strauss Syndrome). American Partnership for Eosinophilic Disorders. September 19, 2014; https://apfed.org/about-ead/eosinophilic-granulomatosis-with-polyangiitis/.
          2. Matteson E. What is Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome). Churg Strauss Syndrome Association. 2012; https://www.cssassociation.org/what-is-churg-strauss-syndrome.html.
          3. Wolfgang Gross and Bernhard Hellmich. Eosinophilic granulomatosis with polyangiitis. Orphanet. November, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183.
          4. Wechsler ME, Akuthota P, Jayne D, et al. Mepolizumab or Placebo for Eosinophilic Granulomatosis with Polyangiitis. The New England Journal of Medicine. May 8, 2017; 376(20):1921-1932. https://www.ncbi.nlm.nih.gov/pubmed/28514601.
          5. Brooks M. FDA OKs Drug for Eosinophilic Granulomatosis With Polyangiitis. Medscape Medical News. December 13 2017; https://www.medscape.com/viewarticle/890013.
          6. Stone JH. Churg Strauss Syndrome. NORD. September 30, 2010; https://rarediseases.org/rare-diseases/churg-strauss-syndrome/.
          7. Villa-Forte A. Eosinophilic Granulomatosis with Polyangiitis (EGPA). Merck Manual for Healthcare Professionals. 2017; https://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/vasculitis/eosinophilic-granulomatosis-with-polyangiitis-egpa.
          8. King TE, Jr. Clinical features and diagnosis of eosinophilic granulomatosis with polyangiitis (Churg-Strauss). UpToDate. Waltham, MA: UpToDate; 2018; https://www.uptodate.com/contents/clinical-features-and-diagnosis-of-eosinophilic-granulomatosis-with-polyangiitis-churg-strauss.
          9. Churg-Strauss Syndrome. Cleveland Clinic. 2015; https://my.clevelandclinic.org/services/orthopaedics-rheumatology/diseases-conditions/hic-churg-strauss-syndrome.
          10. Farid-Moayer M. Churg-Strauss Syndrome. MedScape Reference. March 4, 2015; https://emedicine.medscape.com/article/333492-overview.

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