Pediatric Hypereosinophilic Syndrome Clinical Presentation
- Author: Bruce M Rothschild, MD; Chief Editor: Harumi Jyonouchi, MD more...
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:
- Abdominal pain
- Hepatic thrombosis (Budd-Chiari syndrome)
Pulmonary symptoms include the following:
- 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:
- Muscle pain
Neurologic symptoms include the following:
- Blurred vision
Gynecologic symptoms include mastitis.
Physical findings are those of a multisystem disease associated with thrombotic phenomenon.
Cardiac signs include the following:
- Endomyocardial fibrosis with myocarditis
- 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
- Livido reticularis
- Blistering skin lesions
- 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
Pulmonary signs include the following:
- Pulmonary infiltrates
- Pulmonary hypertension
Neurologic signs include the following:
- 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)
- Keratoconjunctivitis sicca
- Retinal vein thrombosis
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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