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Disease Profile

Episodic angioedema with eosinophilia

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.

Unknown

Age of onset

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ICD-10

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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)

Gleich syndrome

Summary

Episodic angioedema with eosinophilia is a disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes.[1][2] Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.[1][3] The cause of this condition is unknown. Treatment may not be needed, but can involve the use of steroids.[2] 

Symptoms

People with episodic angioedema associated with eosinophilia (EAE) experience recurring episodes of the following symptoms:[2][3][4]

  • Swelling under the skin (angioedema)
  • Hives (urticaria)
  • Fever
  • Swelling
  • Weight gain
  • Reduced production of urine

Laboratory findings during these episodes may include:[2][4]

  • An elevated number of the white blood cells known as eosinophils (eosinophilia)
  • Elevated levels of certain antibodies, including IgG and IgM

The episodes usually occur every 3-4 weeks and resolve on their own within several days. There may be an increase in urine production once symptoms resolve.[3]

Cause

The cause of episodic angioedema with eosinophilia (EAE) is not well understood. Experts suspect that certain proteins in the immune system called interleukins may play a role. Specifically, interleukin 5 (IL-5) levels are elevated during episodes. Studies have lead to the belief that these proteins play a role in the inflammatory process involved in EAE.[4]

Treatment

Treatment may not be needed for episodic angioedema with eosinophilia (EAE), since symptoms usually resolve on their own. When treatment is initiated, steroids are usually the first choice. Certain medications used to treat cancer, including Imatinib (Gleevac) have also been successfully used in treating EAE.[4]

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

References

  1. O'Hollaren MT. The Hypereosinophilic Syndromes. Medscape Reference. 2006; https://www.medscape.org/viewarticle/520117.
  2. Khoury P, Herold J, Alpaugh A, Dinerman E, Holland-Thomas N, Stoddard J et al. Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder. Hematologica. March, 2015; 100(3):300–307. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349267/.
  3. Roufosse F, Klion AD & Weller PF. Hypereosinophilic syndromes: Clinical manifestations, pathophysiology, and diagnosis. UpToDate. August 17, 2017; https://www.uptodate.com/contents/hypereosinophilic-syndromes-clinical-manifestations-pathophysiology-and-diagnosis.
  4. Liu F, Hu W, Liu H, Zhang M, Sang H. Episodic angioedema associated with eosinophilia. Anais Brasileiros de Dermatologia. Jul-Aug, 2017; v.92(4):https://www.ncbi.nlm.nih.gov/pubmed/28954105.
  5. Wright BL, Butterfield JH, Leiferman KM, Gleich GJ. Development of Eosinophilic Endomyocardial Disease in a Patient with Episodic Angioedema and Eosinophilia. The journal of allergy and clinical immunology In practice. 2016; 4(2):336-337. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955938/.

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