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Disease Profile
Eosinophilic granulomatosis with polyangiitis
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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
Symptoms
- 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 varioustissues 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 |
0007009 | ||
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Eosinophilia |
High blood eosinophil count
|
0001880 |
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 |
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 |
0000822 | ||
Hypertrophic |
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 | |
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.
- Mepolizumab(Brand name: Nucala) Manufactured by GlaxoSmithKline LLC
FDA-approved indication: Treatment of adult patients with Eosinophilic Granulomatosis with Polyangiitis (EGPA).
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Related diseases
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 of EGPA include granulomatosis with polyangiitis (formerly Wegener granulomatosis), hypereosinophilic syndrome, microscopic polyangiitis, cryoglobulinemia (see these terms), drug reactions, bronchocentric granulomatosis, fungal and parasitic infections, and malignancy.
Visit the Orphanet disease page for more information.
|
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
-
American Partnership For Eosinophilic Disorders
PO Box 29545
Atlanta, GA 30359
Telephone: 713-493-7749
E-mail: [email protected]
Website: https://www.apfed.org -
Vasculitis Foundation
P.O. Box 28660
Kansas City, MO 64188
Toll-free: 1-800-277-9474
Telephone: +1-816-436-8211
Fax: +1-816-656-3838
E-mail: https://www.vasculitisfoundation.org/contact-us-2/
Website: https://www.vasculitisfoundation.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
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
- 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/.
- 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.
- 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.
- 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.
- Brooks M. FDA OKs Drug for Eosinophilic Granulomatosis With Polyangiitis. Medscape Medical News. December 13 2017; https://www.medscape.com/viewarticle/890013.
- Stone JH. Churg Strauss Syndrome. NORD. September 30, 2010; https://rarediseases.org/rare-diseases/churg-strauss-syndrome/.
- 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.
- 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.
- Churg-Strauss Syndrome. Cleveland Clinic. 2015; https://my.clevelandclinic.org/services/orthopaedics-rheumatology/diseases-conditions/hic-churg-strauss-syndrome.
- Farid-Moayer M. Churg-Strauss Syndrome. MedScape Reference. March 4, 2015; https://emedicine.medscape.com/article/333492-overview.
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