Hypereosinophilic syndrome

Definition

• Idiopathic eosinophilia persisting for more than 6 months without identifiable cause

Differential Diagnosis

• See [[../Syndromes/Eosinophilia.md|Eosinophilia]]

Pathophysiology

• Mutation in PDGFRA and FIP1L1 in some cases, causes a tyrosine kinase mutation

Clinical Manifestations

• Eosinophilia with cardiomyopathy, skin lesions, thromboembolism, pulmonary disease, neuropathy, hepatosplenomegaly, reduced ventricular size, and eczema

Investigations

• Molecular testing for PDGFRA and FIP1L1

Management

• Steroids
• +/- mepolizumab for steroid-sparing
• +/- imatinib if PDGFRA/FIPL1 positive

Prognosis

• Progressive and fatal