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:
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Nausea
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Abdominal pain
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Diarrhea
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Hepatic thrombosis (Budd-Chiari syndrome)
Pulmonary symptoms include the following:
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Breathlessness
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Nonproductive cough
Dermatologic symptoms include a pruritic rash.
Vascular symptoms include the following:
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Raynaud phenomenon
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Thrombotic phenomenon, including retinal and hepatic (Budd-Chiari syndrome) symptoms
Cardiac symptoms include cardiac phenomenon (variant angina).
Musculoskeletal symptoms include the following:
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Arthralgias
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Muscle pain
Neurologic symptoms include the following:
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Blurred vision
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Confusion
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Seizures
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Psychosis
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Dementia
Gynecologic symptoms include mastitis.
Physical
Physical findings are those of a multisystem disease associated with thrombotic phenomenon.
Cardiac signs include the following:
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Endomyocardial fibrosis with myocarditis
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Arrhythmia
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Heart block
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Congestive heart failure (CHF)
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Valvular incompetence from fibrosis of chordae tendineae
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Mitral and tricuspid regurgitation
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Aortic valve disease (rare)
Dermatologic signs include the following:
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Vesiculobullous or petechial rash
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Papulonodular
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Livido reticularis
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Angioedema
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Blistering skin lesions
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Cellulitis
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Erythroderma
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Erythema annulare
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Ulcerating lesions of oral or nasal mucosa, genitalia, and anus
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Subcutaneous nodules
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Raynaud phenomenon
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Subungual petechiae
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Digital necrosis
Musculoskeletal signs include the following:
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Effusions of large joints
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Multifocal bursitis, pauciarticular arthritis, subcutaneous nodules, pseudorheumatoid arthritis, and muscle weakness or tenderness (all rare)
Vascular signs include the following:
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Small-bowel necrosis
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Subungual petechiae
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Digital necrosis
GI signs include the following:
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Esophageal and gastric ulceration
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Small-bowel necrosis
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Sclerosing cholangitis
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Chronic active hepatitis
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Eosinophilic gastritis
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Enterocolitis
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Colitis
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Ascites
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Pancreatitis
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Hepatosplenomegaly
Pulmonary signs include the following:
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Pulmonary infiltrates
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Pleuritis
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Pulmonary hypertension
Neurologic signs include the following:
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Coma
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Encephalopathy
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Peripheral neuropathy (This may occur as symmetric or asymmetric sensory neuropathy, painful paresthesias, mixed sensory and motor neuropathy, mononeuritis multiplex, or radiculopathy.)
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Intracranial hemorrhage and/or stroke
Ocular signs include the following:
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Choroidal abnormalities (patchy and delayed filling, retinal vessel abnormality)
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Pupillotonia
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Keratoconjunctivitis sicca
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Episcleritis
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Retinal vein thrombosis
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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Urticarial and erythematous rash.
