Eosinophils are a type of white blood cell. Elevated eosinophil levels can damage the heart, nerves, and other organs, in the syndrome known as hypereosinophilic syndrome (HES). Some individuals have a hereditary form of HES known as familial eosinophilia (FE). More research on the causation and mechanisms of HES is needed in order to design more effective and less toxic therapies.
This study will investigate FE and its genetic causes, damage mechanisms, and disease markers (such as blood test abnormalities). It will enroll approximately 50 individuals (both adults and children) from a previously studied family with FE. This is a long-term study of indefinite duration.
Participants will undergo yearly clinical examinations including medical history, physical examination, bloodwork, EKG, echocardiogram, and pulmonary function tests, with additional or more frequent examinations and tests as required. In addition, participants will donate blood and tissue for research purposes. Both adult and child participants will donate blood. At the initial evaluation, adult participants will donate bone marrow. During the study, some adult participants will also undergo a limited number of leukaopheresis sessions, in which blood is donated from one arm, the blood is separated into red blood cells and other components, and the red blood cells are returned into the donor's other arm.
Stated willingness to comply with all study procedures and availability for the duration of the study
Male or female, aged 1-100 years of age
Genetically related member of a previously identified family with FE
Ability of subject to understand and the willingness to sign a written informed consent document.
Any condition that the investigator feels put the subject at unacceptable risk for participation in the study
Pregnancy (in family members who do not have eosinophilia)
Affected family members from the previously identified family with FE, as well as affected member of newly identified families with FE and unaffected family members from known families with FE, may enroll.
Family-based
Prospective
Not listed
To study the natural history of familial hypereosinophilia (FE)
Development of eosinophilic end organ manifestations
To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis of FE
Description of immunologic features of FE; identification of genetic driver(s) of FE
To identify early clinical or laboratory markers of disease progression
Identification of clinical or laboratory markers that become abnormal prior to disease progression in FE
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