Pediatric Hypereosinophilic Syndrome Clinical Presentation

Updated: Aug 02, 2018
  • Author: Bruce M Rothschild, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Presentation

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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