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Idiopathic hypereosinophilic syndrome(HES)

MedGen UID:
61525
Concept ID:
C0206141
Disease or Syndrome
Synonyms: HES; Hypereosinophilic Syndrome
Modes of inheritance:
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Somatic mutation (HPO, OMIM)
Sporadic (HPO, OMIM)
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 GTR]

Additional description

From GHR
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.  https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia

Clinical features

Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.
Cardiomyopathy, restrictive
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis.
Endocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system that is present at birth or detected in the neonatal period.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Abnormal increase of EOSINOPHILS in the blood, tissues or organs.
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.
Venous thrombosis
MedGen UID:
22631
Concept ID:
C0042487
Pathologic Function
Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
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
Abnormal increase of EOSINOPHILS in the blood, tissues or organs.
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
A skin disorder characterized by an intense itching sensation.

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. 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. 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. 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

Cheung AC, Hachem CY, Lai J
Clin J Gastroenterol 2016 Aug;9(4):238-42. Epub 2016 Jun 13 doi: 10.1007/s12328-016-0661-8. PMID: 27294613
Andersen CL, Nielsen HM, Kristensen LS, Søgaard A, Vikeså J, Jønson L, Nielsen FC, Hasselbalch H, Bjerrum OW, Punj V, Grønbæk K
Oncotarget 2015 Dec 1;6(38):40588-97. doi: 10.18632/oncotarget.5845. PMID: 26497854Free PMC Article
Rice CM, Kurian KM, Renowden S, Whiteway A, Price C, Scolding NJ
J Neurol 2015 May;262(5):1354-9. Epub 2015 Apr 7 doi: 10.1007/s00415-015-7720-9. PMID: 25843450
Riyaz N, Sasidharanpillai S, Rahima S, Bindu V, Shaan M, Raghavan NT, Mohan L, Janardhanan AK
Clin Exp Dermatol 2015 Aug;40(6):629-32. Epub 2015 Feb 22 doi: 10.1111/ced.12618. PMID: 25704069
Kanthila J, Bhaskaranand N
Indian J Pediatr 2013 Feb;80(2):124-7. Epub 2012 Jun 28 doi: 10.1007/s12098-012-0821-x. PMID: 22740191

Therapy

Rice CM, Kurian KM, Renowden S, Whiteway A, Price C, Scolding NJ
J Neurol 2015 May;262(5):1354-9. Epub 2015 Apr 7 doi: 10.1007/s00415-015-7720-9. PMID: 25843450
Tohge R, Warabi Y, Takahashi M, Nagao M
BMJ Case Rep 2014 May 20;2014 doi: 10.1136/bcr-2014-204326. PMID: 24849647Free PMC Article
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. 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. PMID: 22740191
Wang L, Wei L, Wang JC, Liu YH, Deng YC
J Clin Neurosci 2012 Dec;19(12):1746-8. Epub 2012 Sep 19 doi: 10.1016/j.jocn.2011.12.036. PMID: 22999560

Prognosis

Trattner H, Breier F, Steiner A, Wruhs M, Feldmann R
Eur J Dermatol 2014 Mar-Apr;24(2):274-5. doi: 10.1684/ejd.2014.2307. PMID: 24667633
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. PMID: 21664795
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

Smith SM, Kiracofe EA, Clark LN, Gru AA
Am J Dermatopathol 2015 Dec;37(12):910-4. doi: 10.1097/DAD.0000000000000279. PMID: 25839890Free PMC Article
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

Recent systematic reviews

Gotlib J
Am J Hematol 2015 Nov;90(11):1077-89. doi: 10.1002/ajh.24196. PMID: 26486351
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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