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Pediatric Hypereosinophilic Syndrome Clinical Presentation

  • Author: Bruce M Rothschild, MD; Chief Editor: Harumi Jyonouchi, MD  more...
 
Updated: Aug 31, 2015
 

History

Hypereosinophilia syndrome is a multisystem disease with symptoms related to eosinophil proteins and thrombotic phenomenon. Constitutional symptoms include fever, night sweats, anorexia, weight loss, fatigue, and nausea. Alcohol intolerance is occasionally noted.

Abdominal/GI symptoms include the following:

Pulmonary symptoms include the following:

  • Breathlessness
  • Nonproductive cough

Dermatologic symptoms include a pruritic rash.

Vascular symptoms include the following:

  • Raynaud phenomenon
  • Thrombotic phenomenon, including retinal and hepatic (Budd-Chiari syndrome) symptoms

Cardiac symptoms include cardiac phenomenon (variant angina).

Musculoskeletal symptoms include the following:

  • Arthralgias
  • Muscle pain

Neurologic symptoms include the following:

  • Blurred vision
  • Confusion
  • Seizures
  • Psychosis
  • Dementia

Gynecologic symptoms include mastitis.

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Physical

Physical findings are those of a multisystem disease associated with thrombotic phenomenon.

Cardiac signs include the following:

  • Endomyocardial fibrosis with myocarditis
  • Arrhythmia
  • Heart block
  • Congestive heart failure (CHF)
  • Valvular incompetence from fibrosis of chordae tendineae
  • Mitral and tricuspid regurgitation
  • Aortic valve disease (rare)

Dermatologic signs include the following:

  • Vesiculobullous or petechial rash
  • Papulonodular
  • Livido reticularis
  • Angioedema
  • Blistering skin lesions
  • Cellulitis
  • Erythroderma
  • Erythema annulare
  • Ulcerating lesions of oral or nasal mucosa, genitalia, and anus
  • Subcutaneous nodules
  • Raynaud phenomenon
  • Subungual petechiae
  • Digital necrosis

Musculoskeletal signs include the following:

  • Effusions of large joints
  • Multifocal bursitis, pauciarticular arthritis, subcutaneous nodules, pseudorheumatoid arthritis, and muscle weakness or tenderness (all rare)

Vascular signs include the following:

  • Small-bowel necrosis
  • Subungual petechiae
  • Digital necrosis

GI signs include the following:

  • Esophageal and gastric ulceration
  • Small-bowel necrosis
  • Sclerosing cholangitis
  • Chronic active hepatitis
  • Eosinophilic gastritis
  • Enterocolitis
  • Colitis
  • Ascites
  • Pancreatitis
  • Hepatosplenomegaly

Pulmonary signs include the following:

  • Pulmonary infiltrates
  • Pleuritis
  • Pulmonary hypertension

Neurologic signs include the following:

  • Coma
  • Encephalopathy
  • Peripheral neuropathy (This may occur as symmetric or asymmetric sensory neuropathy, painful paresthesias, mixed sensory and motor neuropathy, mononeuritis multiplex, or radiculopathy.)
  • Intracranial hemorrhage and/or stroke

Ocular signs include the following:

  • Choroidal abnormalities (patchy and delayed filling, retinal vessel abnormality)
  • Pupillotonia
  • Keratoconjunctivitis sicca
  • Episcleritis
  • Retinal vein thrombosis
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Causes

The cause is unknown, except in platelet-derived growth factor receptor alpha (PDGFRA)-associated hypereosinophilic syndrome. In this condition, the formation of theFLIP1L1/PDGFRA fusion gene (secondary to a 4q12 microdeletion) results in increased activity of tyrosine kinase of PDFGRA, resulting in eosinophilia or PDGFRA-associated chronic eosinophilic leukemia. Formation of the FLIP1L1/PDGFRA fusion gene is known to be found in 10-15% of patients with hypereosinophilic syndrome.

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Contributor Information and Disclosures
Author

Bruce M Rothschild, MD Professor of Medicine, Northeast Ohio Medical University; Adjunct Professor, Department of Biomedical Engineering, University of Akron; Research Associate, University of Kansas Museum of Natural History; Research Associate, Carnegie Museum

Bruce M Rothschild, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Rheumatology, International Skeletal Society, New York Academy of Sciences, Sigma Xi, Society of Skeletal Radiology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David J Valacer, MD 

David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

Additional Contributors

James M Oleske, MD, MPH François-Xavier Bagnoud Professor of Pediatrics, Director, Division of Pulmonary, Allergy, Immunology and Infectious Diseases, Department of Pediatrics, Rutgers New Jersey Medical School; Professor, Department of Quantitative Methods, Rutgers New Jersey Medical School

James M Oleske, MD, MPH is a member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Allergy Asthma and Immunology, American Academy of Hospice and Palliative Medicine, American Association of Public Health Physicians, American College of Preventive Medicine, American Pain Society, Infectious Diseases Society of America, Infectious Diseases Society of New Jersey, Medical Society of New Jersey, Pediatric Infectious Diseases Society, Arab Board of Family Medicine, American Academy of Pain Management, National Association of Pediatric Nurse Practitioners, Association of Clinical Researchers and Educators, American Academy of HIV Medicine, American Thoracic Society, American Academy of Pediatrics, American Public Health Association, American Society for Microbiology, Infectious Diseases Society of America, Pediatric Infectious Diseases Society

Disclosure: Nothing to disclose.

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