Hypereosinophilic syndrome

Hypereosinophilic syndrome
ICD-10	D72.1 (ILDS D72.12)
ICD-9	288.3
ICD-O:	9964/3
OMIM	607685
eMedicine	med/1076  derm/920
MeSH	D017681

Template:Search infobox Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

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Overview

The hypereosinophilic syndrome is a disease process characterized by a persistently elevated eosinophil count (≥ 1500 eosinophils/mm³) in the blood for at least six months without any recognizable cause after a careful workup, with evidence of involvement of either the heart, nervous system, or bone marrow.

Classification

There are two forms of the hypereosinophilic syndrome: Endomyocardial fibrosis and Loeffler's endocarditis.

• Endomyocardial fibrosis (also known as Davies disease) is seen in Africa and South America.
• Loeffler's endocarditis does not have any geographic predisposition.

Presentation

In both forms of the hypereosinophilic syndrome, the eosinophilia causes infiltration of the myocardium of the heart, which leads to fibrotic thickening of portions of the heart. The portions of the heart most affected by this disease are the apex of the left and right ventricles, but fibrotic infiltrations may also involve the mitral or tricuspid valves. Because of the infiltrative nature of the disease process, the cavity of the ventricles of the heart diminish in size, causing an obliterative cardiomyopathy and restriction to the inflow of blood in to the chambers of the heart. Ventricular mural thrombi may develop.

Relationship to chronic eosinophilic leukemia

Chronic eosinophilic leukemia (CEL) is a myeloproliferative disease which shares many common characteristics with hypereosinophilic syndrome. Many cases of CEL have a characteristic gene rearrangement , FIP1L1/PDGFRA, caused by a sub-microscopic deletion of ~800 thousand base pairs of DNA on chromosome 4. The FIP1L1/PDGFRA fusion gene causes constitutive activation of the platelet derived growth factor receptor - alpha (PDGFRA). FIP1L1/PDGFRA-positive patients respond well to treatment with tyrosine kinase inhibitor drugs, such as imatinib mesylate (Gleevec® or Glivec®).

Pathological Findings

Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology

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  Endomyocardial Fibrosis With Ventricular Thrombosis: Gross fixed tissue good color view from right atrium into right ventricle showing top of thrombus in right ventricle strange case of 43yo F with thrombi filling both ventricles cause completely unknown
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  Endomyocardial Fibrosis With Ventricular Thrombosis: Gross fixed tissue good color horizontal section of ventricles endocardial fibrosis thrombus and focal myocardial fibrosis are evident strange case with no evident cause

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  Endomyocardial Fibrosis With Ventricular Thrombosis: Gross fixed tissue color not to good horizontal section of ventricles showing thrombus filling both which is quite old and in left ventricle endocardial fibrosis and focal myocardial fibrosis cause unknown heart wt 550 gm
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  Endomyocardial Fibrosis With Ventricular Thrombosis: Gross fixed tissue not to bad color four horizontal sections of ventricles showing lumens filled with thrombus mostly old and on left endocardial fibrosis 43 year old female cause completely unknown ventricles had slowing filled with thrombus

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  BONE MARROW: HYPEREOSINOPHILIC SYNDROME Blood smear from a 50-year-old male with a 3-year history of hypereosinophilic syndrome with progressive bone marrow failure and multiple organ involvement. The three eosinophils show marked hypogranulation. (Wright-Giemsa stain)
• 
  BONE MARROW: HYPEREOSINOPHILIC SYNDROME Bone marrow smear from the patient in A showing a marked increase in eosinophils at all stages of maturation. Some of the granules in immature eosinophils have a basophilic color and two of the eosinophil myelocytes have a diminished number of granules. (Wright-Giemsa stain)

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  BONE MARROW: HYPEREOSINOPHILIC SYNDROME Bone marrow biopsy showing marked hypercellularity due primarily to an increase in eosinophils and precursors. Megakaryocytes are markedly reduced. Increased reticulin fibers are present. Despite intensive chemotherapy there was a progressive increase in marrow fibrosis and number of blasts. The patient died of central nervous system failure 17 months after this specimen was obtained. (Hematoxylin and eosin stain)

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  BONE MARROW: HYPEREOSINOPHILIC SYNDROME WITH MYELOFIBROSIS Bone marrow biopsy. The marrow is markedly fibrotic. (Hematoxylin and eosin stain)
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  BONE MARROW: HYPEREOSINOPHILIC SYNDROME WITH MYELOFIBROSIS High magnification of the specimen on the left. Blasts and immature cells are scattered throughout the fibrotic tissue. (Hematoxylin and eosin stain)

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  BONE MARROW: HYPEREOSINOPHILIC SYNDROME: ULTRASTRUCTURE Electron micrograph of an abnormal eosinophil from the specimen in figure 274B. There is a decreased number of granules. The majority of the granules present are homogeneous in contrast to normal eosinophil granules which have a dense core surrounded by a less dense capsule. (Uranyl acetate-lead citrate stains, X20,000)
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  BONE MARROW: MAST CELL LEUKEMIA AND EOSINOPHILIA A blood smear from a young woman with mast cell leukemia and marked eosinophilia. There are five eosinophils, one neutrophil, and a large atypical-appearing mast cell with relatively sparse small granules and a slightly lobulated nucleus. This patient had eosinophilia as a presenting feature and was initially thought to have a hypereosinophilic syndrome. Eosinophilia is observed in approximately one third of patients with systemic mast cell disease. (Wright-Giemsa stain)

External links

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