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Idiopathic hypereosinophilic syndrome(HES)

MedGen UID:
61525
Concept ID:
C0206141
Disease or Syndrome
Synonyms: HES; Hypereosinophilic Syndrome; Idiopathic Hypereosinophilic Syndrome
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
SNOMED CT: Idiopathic hypereosinophilic syndrome (414450004); Idiopathic hypereosinophilic syndrome (423294001); Hypereosinophilic syndrome (423294001); Idiopathic hypereosinophilic syndrome (HES) (423294001)
 
Gene (location): PDGFRA (4q12)
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 GHR]

Clinical features

Myeloproliferative disorder
MedGen UID:
505828
Concept ID:
CN004913
Finding
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Abnormality of the nervous system
MedGen UID:
428224
Concept ID:
CN000664
Finding
An abnormality of the nervous system.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Pruritus
MedGen UID:
504677
Concept ID:
CN000926
Finding
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.
Restrictive cardiomyopathy
MedGen UID:
368785
Concept ID:
C1963079
Finding
Restrictive cardiomyopathy resulting from a known treatment.
Endocardial fibrosis
MedGen UID:
505950
Concept ID:
CN005821
Finding
The presence of excessive connective tissue in the endocardium.
Venous thrombosis
MedGen UID:
776553
Concept ID:
C0517555
Finding
Eosinophilia
MedGen UID:
412195
Concept ID:
C2240374
Finding
A condition in which the number of eosinophils (a type of white blood cell) in the blood is greatly increased. Eosinophilia is often a response to infection or allergens (substances that cause an allergic response).
Myeloproliferative disorder
MedGen UID:
505828
Concept ID:
CN004913
Finding
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Pulmonary infiltrates
MedGen UID:
505111
Concept ID:
CN001913
Finding
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Eosinophilia
MedGen UID:
412195
Concept ID:
C2240374
Finding
A condition in which the number of eosinophils (a type of white blood cell) in the blood is greatly increased. Eosinophilia is often a response to infection or allergens (substances that cause an allergic response).
Myeloproliferative disorder
MedGen UID:
505828
Concept ID:
CN004913
Finding
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Myalgia
MedGen UID:
368426
Concept ID:
C1963177
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGIdiopathic hypereosinophilic syndrome

Recent clinical studies

Etiology

Helbig G, Wiśniewska-Piąty K, Francuz T, Dziaczkowska-Suszek J, Kyrcz-Krzemień S
Leuk Lymphoma 2013 Apr;54(4):807-11. Epub 2012 Oct 5 doi: 10.3109/10428194.2012.731602. [Epub ahead of print] PMID: 22988896
Kanthila J, Bhaskaranand N
Indian J Pediatr 2013 Feb;80(2):124-7. Epub 2012 Jun 28 doi: 10.1007/s12098-012-0821-x. [Epub ahead of print] PMID: 22740191
Chu MW, Adams C, Yared K, Ball W, Dhingra S, Rosenbloom A
Can J Cardiol 2011 Nov-Dec;27(6):868.e11-3. Epub 2011 Jun 12 doi: 10.1016/j.cjca.2011.01.012. [Epub ahead of print] PMID: 21664795
Razaq W, Beautyman E
Am J Ther 2009 Jan-Feb;16(1):68-70. doi: 10.1097/MJT.0b013e318175d12d. PMID: 19142161
Kiris I, Okutan H, Peker T, Aslan SM, Sahin M, Bircan S
J Card Surg 2009 Jan-Feb;24(1):80-2. doi: 10.1111/j.1540-8191.2008.00639.x. PMID: 19120681

Diagnosis

Wang YB, Han YJ, Uchida K, Zhao BC, Chen KB, Ma WY, Xie FJ, Liu TL, Zhang LX
Ann Thorac Surg 2014 Nov;98(5):1838-41. Epub 2014 Oct 30 doi: 10.1016/j.athoracsur.2013.12.078. [Epub ahead of print] PMID: 25441802
He YQ, Zhao YN, Zhu JM, Zhang MC, Liu L, Zeng H, Yang P
Medicine (Baltimore) 2014 Oct;93(15):e82. doi: 10.1097/MD.0000000000000082. PMID: 25275526
Tohge R, Warabi Y, Takahashi M, Nagao M
BMJ Case Rep 2014 May 20;2014 doi: 10.1136/bcr-2014-204326. PMID: 24849647
Uçar Elalmış O, Mansuroğlu C, Ciçekçioğlu H, Karagöz A
Turk Kardiyol Dern Ars 2014 Apr;42(3):281-4. PMID: 24769822
Todd S, Hemmaway C, Nagy Z
Br J Haematol 2014 May;165(4):425. Epub 2014 Jan 24 doi: 10.1111/bjh.12729. [Epub ahead of print] PMID: 24456103

Therapy

Zakhama L, Slama I, Boussabah E, Harbegue B, Mimouni M, Abdelaali N, Sioua S, Thameur M, Benyoussef S
J Heart Valve Dis 2014 Mar;23(2):168-70. PMID: 25076546
Tohge R, Warabi Y, Takahashi M, Nagao M
BMJ Case Rep 2014 May 20;2014 doi: 10.1136/bcr-2014-204326. PMID: 24849647
Todd S, Hemmaway C, Nagy Z
Br J Haematol 2014 May;165(4):425. Epub 2014 Jan 24 doi: 10.1111/bjh.12729. [Epub ahead of print] PMID: 24456103
Fang Q, Gu TX, Xiu ZY, Zhang ZW
J Thorac Cardiovasc Surg 2013 Nov;146(5):e45-7. Epub 2013 Aug 31 doi: 10.1016/j.jtcvs.2013.07.033. [Epub ahead of print] PMID: 24001347
Kanthila J, Bhaskaranand N
Indian J Pediatr 2013 Feb;80(2):124-7. Epub 2012 Jun 28 doi: 10.1007/s12098-012-0821-x. [Epub ahead of print] PMID: 22740191

Prognosis

Chu MW, Adams C, Yared K, Ball W, Dhingra S, Rosenbloom A
Can J Cardiol 2011 Nov-Dec;27(6):868.e11-3. Epub 2011 Jun 12 doi: 10.1016/j.cjca.2011.01.012. [Epub ahead of print] PMID: 21664795
Kanamori M, Suzuki H, Sato I, Ohyama K, Tezuka F, Katakura R
Clin Neuropathol 2009 May-Jun;28(3):197-202. PMID: 19537138
Grigoryan M, Geisler SD, St Louis EK, Baumbach GL, Davis PH
Arch Neurol 2009 Apr;66(4):528-31. doi: 10.1001/archneurol.2009.36. PMID: 19364940
Razaq W, Beautyman E
Am J Ther 2009 Jan-Feb;16(1):68-70. doi: 10.1097/MJT.0b013e318175d12d. PMID: 19142161
Kiris I, Okutan H, Peker T, Aslan SM, Sahin M, Bircan S
J Card Surg 2009 Jan-Feb;24(1):80-2. doi: 10.1111/j.1540-8191.2008.00639.x. PMID: 19120681

Clinical prediction guides

Chou CW, Hsu SP, Chen MT, Chen MH, Shih YH, Lee LS, Lin CF
Surg Neurol 2007;68 Suppl 1:S52-5; discussion S55. doi: 10.1016/j.surneu.2007.01.077. PMID: 17963925
Lampinen M, Oberg G, Venge P, Carlson M
APMIS 2006 Nov;114(11):757-63. doi: 10.1111/j.1600-0463.2006.apm_493.x. PMID: 17078855
Roche-Lestienne C, Lepers S, Soenen-Cornu V, Kahn JE, Laï JL, Hachulla E, Drupt F, Demarty AL, Roumier AS, Gardembas M, Dib M, Philippe N, Cambier N, Barete S, Libersa C, Bletry O, Hatron PY, Quesnel B, Rose C, Maloum K, Blanchet O, Fenaux P, Prin L, Preudhomme C
Leukemia 2005 May;19(5):792-8. doi: 10.1038/sj.leu.2403722. PMID: 15772698
Sarazin M, Caumes E, Cohen A, Amarenco P
J Neurol Neurosurg Psychiatry 2004 Feb;75(2):305-7. PMID: 14742613Free PMC Article
Ault P, Cortes J, Koller C, Kaled ES, Kantarjian H
Leuk Res 2002 Sep;26(9):881-4. PMID: 12127565

Recent systematic reviews

Gotlib J
Am J Hematol 2014 Mar;89(3):325-37. doi: 10.1002/ajh.23664. PMID: 24577808
Gotlib J
Am J Hematol 2012 Sep;87(9):903-14. doi: 10.1002/ajh.23293. PMID: 22926771
Gotlib J
Am J Hematol 2011 Aug;86(8):677-88. doi: 10.1002/ajh.22062. PMID: 21761433
Gassas A, Doyle JJ, Weitzman S, Freedman MH, Hitzler JK, Sharathkumar A, Dror Y
J Pediatr Hematol Oncol 2005 Apr;27(4):192-6. PMID: 15838389

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