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Familial eosinophilia(EOS)

MedGen UID:
78796
•Concept ID:
C0272192
•
Disease or Syndrome
Synonym: EOS
SNOMED CT: Familial eosinophilia (79336007); Hereditary eosinophilia (191358004)
 
Monarch Initiative: MONDO:0007544
OMIM®: 131400

Definition

Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by Rioux et al., 1998). [from OMIM]

Clinical features

From HPO
Myocardial eosinophilic infiltration
MedGen UID:
1626088
•Concept ID:
C4531200
•
Finding
An increase in the number of eosinophils in myocardial tissue.
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
See: Feature record | Search on this feature
Eosinophilia
MedGen UID:
41824
•Concept ID:
C0014457
•
Disease or Syndrome
Increased count of eosinophils in the blood.
See: Feature record | Search on this feature
Leukocytosis
MedGen UID:
9736
•Concept ID:
C0023518
•
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Eosinophilia with organ involvement in 3 siblings.
Ota M, Takenaka K, Takahashi M, Nagasaka K
Nihon Rinsho Meneki Gakkai Kaishi 2012;35(6):533-8. doi: 10.2177/jsci.35.533. PMID: 23291489
Familial eosinophilia: clinical and laboratory results on a U.S. kindred.
Lin AY, Nutman TB, Kaslow D, Mulvihill JJ, Fontaine L, White BJ, Knutsen T, Theil KS, Raghuprasad PK, Goldstein AM, Tucker MA
Am J Med Genet 1998 Mar 19;76(3):229-37. PMID: 9508242
Disseminated eosinophilic collagenosis and familial eosinophilia.
Sparrevohn S
Acta Paediatr Scand 1967 May;56(3):307-12. doi: 10.1111/j.1651-2227.1967.tb15383.x. PMID: 6033105

Prognosis

Familial eosinophilia: a benign disorder?
Klion AD, Law MA, Riemenschneider W, McMaster ML, Brown MR, Horne M, Karp B, Robinson M, Sachdev V, Tucker E, Turner M, Nutman TB
Blood 2004 Jun 1;103(11):4050-5. Epub 2004 Feb 26 doi: 10.1182/blood-2003-11-3850. PMID: 14988154

Clinical prediction guides

Eosinophilia with organ involvement in 3 siblings.
Ota M, Takenaka K, Takahashi M, Nagasaka K
Nihon Rinsho Meneki Gakkai Kaishi 2012;35(6):533-8. doi: 10.2177/jsci.35.533. PMID: 23291489
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.
Rioux JD, Stone VA, Daly MJ, Cargill M, Green T, Nguyen H, Nutman T, Zimmerman PA, Tucker MA, Hudson T, Goldstein AM, Lander E, Lin AY
Am J Hum Genet 1998 Oct;63(4):1086-94. doi: 10.1086/302053. PMID: 9758611Free PMC Article

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