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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
HES; Hypereosinophilic syndrome, idiopathic
Blood Diseases; Heart Diseases
- Skin rashes, itching, and edema.
- Lung asthma, cough, difficulty breathing, recurrent upper respiratory infections, and pleural effusion.
- Gastrointestinal abdominal pain, vomiting, and diarrhea.
arthritis, muscle inflammation, muscle aches, and joint pain.
- Nervous system vertigo, paresthesia, speech impairment, and visual disturbances.
- Heart congestive heart failure,
cardiomyopathy, pericardial effusion, and myocarditis.
- Blood deep venous thrombosis, and
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||
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
Low platelet count
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the nervous system||
[ more ]
Low number of red blood cells or hemoglobin
High blood eosinophil count
[ more ]
|Myocardial eosinophilic infiltration||0031323|
[ more ]
Increased spleen size
No previous family history
Blood clot in vein
- Myeloproliferative neoplasms or other disorders that affect the bone marrow (
myeloproliferativedisorders). This form is called myeloproliferative HES.
- Increased production of interleukin-5 (a
proteinproduced by certain types of white blood cell). This form is called lymphocytic HES.
- A change (
mutation) in an unknown genepassed down through a family. This form is called familialHES.
- Persistent eosinophilia, as defined by blood counts showing increased numbers of eosinophils (greater than 1500 eosinophils/uL) for at least 6 months
- Signs and symptoms of
- No evidence of other conditions that can cause eosinophilia*
*Due to advances in the diagnostic techniques, a specific cause of eosinophilia can be identified in a proportion of cases that would have otherwise been classified as idiopathic hypereosinophilic syndrome
Specialists involved in the care of someone with HES may include:
Hematologist Oncologist Immunologist Infectious disease specialist Cardiologist Pulmonologist
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.
- Imatinib mesylate(Brand name: Gleevec®) Manufactured by Novartis Pharmaceuticals Corp.
FDA-approved indication: Treatment of adult patients with hypereosinophic syndrome (HES) and/or chronic eosinophilic leukemia (CEL) who have the FIP1L1-PDGFRÎ± fusion kinase
National Library of Medicine Drug Information Portal
- Mepolizumab(Brand name: NUCALA) Manufactured by GlaxoSmithKline LLC
FDA-approved indication: NUCALA is indicated for the treatment of adult and pediatric patients aged 12 years and older with hypereosinophilic syndrome (HES) for > or = 6 months without an identifiable non-hematologic secondary cause
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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 drug allergies and parasitic infections, solid and hematological malignancies (i.e. chronic myeloid leukemia), eosinophilic granulomatosis with polyangiitis and human T cell lymphotropic virus infection (see these terms).
Visit the Orphanet disease page for more information.
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.
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.
- The American Academy of Allergy Asthma and Immunology offers information on Hypereosinophilic syndrome
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Mayo Clinic has an information page on Hypereosinophilic syndrome.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
idiopathic hypereosinophilic syndrome
- 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 Hypereosinophilic syndrome. Click on the link to view a sample search on this topic.
- Noh HR, Magpantay GG. Hypereosinophilic syndrome. Allergy Asthma Proc. January 2017; 38(1):78-81.
- Curtis C, Ogbogu P. Hypereosinophilic Syndrome. Clin Rev Allergy Immunol. April 2016; 50(2):240-251.
- Venkata Anuradha Samavedi, MBBS, MD. Hypereosinophilic Syndrome. Medscape Reference. March 2017; https://emedicine.medscape.com/article/202030-overview.
- Hypereosinophilic syndrome. Orphanet. January 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956.
- Klion A. Hypereosinophilic syndrome: approach to treatment in the era of precision medicine. Hematology Am Soc Hematol Educ Program. Nov 30, 2018; 2018(1):326-331. https://pubmed.ncbi.nlm.nih.gov/30504328.
- Shomali W, Gotlib J. World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management. Am J Hematol. Oct 2019; 94(10):1149-1167. https://pubmed.ncbi.nlm.nih.gov/31423623.