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Idiopathic hypereosinophilic syndrome(HES)

MedGen UID:
61525
Concept ID:
C0206141
Disease or Syndrome
Synonym: HES
SNOMED CT: Idiopathic hypereosinophilic syndrome (414450004); Idiopathic hypereosinophilic syndrome (423294001); Idiopathic hypereosinophilic syndrome (HES) (423294001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): PDGFRA (4q12)
 
Monarch Initiative: MONDO:0011895
OMIM®: 607685
Orphanet: ORPHA3260

Definition

PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.

Another characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.

Some people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.

PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown. [from MedlinePlus Genetics]

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Restrictive cardiomyopathy
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
Endomyocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
The presence of excessive connective tissue in the endocardium.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Venous thrombosis
MedGen UID:
22631
Concept ID:
C0042487
Pathologic Function
Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). Genetic Heterogeneity of Thrombophilia THPH2 (188055) is caused by mutation in the F5 gene (612309) on chromosome 1q23; THPH3 (176860) and THPH4 (612304) are both caused by mutation in the PROC gene (612283) on 2q; THPH5 (612336) and THPH6 (614514) are caused by mutation in the PROS1 gene (176880) on 3q11; THPH7 (613118) is caused by mutation in the AT3 gene (107300) on 1q25; THPH8 (300807) is caused by mutation in the F9 gene (300746) on Xq27; THPH9 (612348) is associated with decreased release of tissue plasminogen activator (PLAT; 173370); THPH10 (612356) is caused by mutation in the HCF2 gene (142360) on 22q11; THPH11 (613116) is caused by mutation in the HRG gene (142640) on 3q27; and THPH12 (614486) is associated with variation in the THBD gene (188040) on 20p11. Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR (607093.0003); F13B (134580.0003); plasminogen activator inhibitor (SERPINE1; 173360); and several genes encoding fibrinogen (FGA, 134820; FGB, 134830; FGG, 134850). Variation in the SERPINA10 (see 605271.0001), KNG1 (612358) and HABP2 (603924) genes has also been reported. Protection against venous thrombosis is associated with variation in the F13A1 gene (134570) on 6p25.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic hypereosinophilic syndrome
Follow this link to review classifications for Idiopathic hypereosinophilic syndrome in Orphanet.

Professional guidelines

PubMed

Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Roufosse F
Immunol Allergy Clin North Am 2015 Aug;35(3):561-75. doi: 10.1016/j.iac.2015.05.006. PMID: 26209900

Recent clinical studies

Etiology

Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Simon D, Simon HU
J Allergy Clin Immunol 2007 Jun;119(6):1291-300; quiz 1301-2. Epub 2007 Apr 2 doi: 10.1016/j.jaci.2007.02.010. PMID: 17399779
Tay C
Rheumatology (Oxford) 1999 Dec;38(12):1188-94. doi: 10.1093/rheumatology/38.12.1188. PMID: 10587544
Pickering MC, Walport MJ
Curr Opin Rheumatol 1998 Nov;10(6):504-10. doi: 10.1097/00002281-199811000-00002. PMID: 9812210

Diagnosis

Tzankov A, Reichard KK, Hasserjian RP, Arber DA, Orazi A, Wang SA
Virchows Arch 2023 Jan;482(1):85-97. Epub 2022 Sep 7 doi: 10.1007/s00428-022-03402-8. PMID: 36068374
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Wang SA
Pathobiology 2019;86(1):39-52. Epub 2018 Jun 29 doi: 10.1159/000489341. PMID: 29961056
Cheung CC, Constantine M, Ahmadi A, Shiau C, Chen LYC
Am J Med Sci 2017 Nov;354(5):486-492. Epub 2017 Apr 6 doi: 10.1016/j.amjms.2017.04.002. PMID: 29173361

Therapy

Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Dong JH, Xu ST, Xu F, Zhou YC, Li Z, Li SJ
Clin Exp Nephrol 2021 Mar;25(3):270-278. Epub 2021 Jan 4 doi: 10.1007/s10157-020-02012-5. PMID: 33398597
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Tavil B, Aytaç S, Unal S, Kuskonmaz B, Gumruk F, Cetin M
J Pediatr Hematol Oncol 2016 Oct;38(7):539-43. doi: 10.1097/MPH.0000000000000668. PMID: 27548336
Roufosse F
Immunol Allergy Clin North Am 2015 Aug;35(3):561-75. doi: 10.1016/j.iac.2015.05.006. PMID: 26209900

Prognosis

Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Dong JH, Xu ST, Xu F, Zhou YC, Li Z, Li SJ
Clin Exp Nephrol 2021 Mar;25(3):270-278. Epub 2021 Jan 4 doi: 10.1007/s10157-020-02012-5. PMID: 33398597
He YQ, Zhu JM, Tong YL, Zeng H, Yang P
Cardiovasc J Afr 2020 Sep/Oct;31(5):274-280. Epub 2020 Jun 12 doi: 10.5830/CVJA-2020-009. PMID: 32555925
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Tavil B, Aytaç S, Unal S, Kuskonmaz B, Gumruk F, Cetin M
J Pediatr Hematol Oncol 2016 Oct;38(7):539-43. doi: 10.1097/MPH.0000000000000668. PMID: 27548336

Clinical prediction guides

Noro Y, Miyata H, Furuta T, Sugita Y, Suzuki Y, Kusumi M, Tanabe M, Shomori K
Neuropathology 2022 Jun;42(3):239-244. Epub 2022 Apr 11 doi: 10.1111/neup.12810. PMID: 35411628Free PMC Article
Dong JH, Xu ST, Xu F, Zhou YC, Li Z, Li SJ
Clin Exp Nephrol 2021 Mar;25(3):270-278. Epub 2021 Jan 4 doi: 10.1007/s10157-020-02012-5. PMID: 33398597
He YQ, Zhu JM, Tong YL, Zeng H, Yang P
Cardiovasc J Afr 2020 Sep/Oct;31(5):274-280. Epub 2020 Jun 12 doi: 10.5830/CVJA-2020-009. PMID: 32555925
Helbig G
Curr Opin Hematol 2014 Jan;21(1):3-7. doi: 10.1097/MOH.0000000000000011. PMID: 24322486
Tay C
Rheumatology (Oxford) 1999 Dec;38(12):1188-94. doi: 10.1093/rheumatology/38.12.1188. PMID: 10587544

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