hypereosinophilic syndrome
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Etiology
- secondary eosinphilia (see eosinophilia)
- helminth infection (most common cause of eosinophilia)[2]
- connective tissue disorder
- neoplasm
- allergy
- primary myeloproliferative neoplasm[2]
- activations of PDGFR-alpha or PDGFR-beta[2]
Epidemiology
- rare
- most patients are in the 3rd or 4th decade of life
- male:female ratio is 7:1
Pathology
- absence of obvious reason for eosinophilia
- sustained overproduction of eosinophils in the bone marrow
- eosinophil tissue infiltration including skin, lung, GI tract, liver, heart, spleen & lymph nodes
- end organ damage resulting from eosinophilia
- skin, lung, GI tract & heart
- lung involvement in 40% of patients
- pulmonary infiltrates
- pulmonary fibrosis may develop in chronic cases
- endocardial disease, restrictive cardiomyopathy
Genetics
- fusion of FIP1L1 & PDGFRA (FIP1L1-PDGFRA), due to an interstitial chromosomal deletion del(4)(q12q12)
- constitutive activation of PDGFR-alpha or PDGFR-beta
Clinical manifestations
- fever
- night sweats
- GI: anorexia, diarrhea, weight loss
- lung: cough, progressive dyspnea, pulmonary crackles
- skin & mucous membranes:
- heart:
- hepatosplenomegaly
- often asymptomatic
- eosinophilia is often an incidental finding
Diagnostic criteria
- eosinophilia (>1500 cells per cubic millimeter) persisting for 6 months
- absence of secondary causes of eosinophilia
- end-organ involvement
Laboratory
- complete blood count (CBC) with differential
- leukocytosis generally > 10,000/mm3
- eosinophilia > 1500/mm3 (30-70%) for > 6 months duration
- 10-30% of cases may lack eosinophilia
- peripheral smear:
- normal appearing eosinophils
- no blasts
- bronchoalveolar lavage (BAL)
- cell count may show > 70% eosinophils
- molecular diagnostic testing
- examination of the stool for helminth infection
Diagnostic procedures
- electrocardiogram: low QRS voltage (case presentation[2])
- echocardiogram: (case presentation[2])
- mitral regurgitation
- restrictive left ventricular filling
- increased echogenicity of endocardium
Radiology
Complications
- pulmonary fibrosis may develop in chronic cases
- cardiac complications
- thromboembolism
- cerebrovascular lesions
- peripheral neuropathy
- often fatal disease
Differential diagnosis
Management
- supportive
- eosinophilia & clinical course may remain stable for years
- glucocorticoids 1st line[2]
- lytic effect on peripheral & tissue eosinophils[2]
- may exacerbate Strongyloides infection[2]
- second line therapy
- tyrosine kinase inhibitor
- imatinib effective with PDGF receptor alpha (or beta ?) aberrations[2]
- interferon
- cyclosporine
- chemotherapy
- tyrosine kinase inhibitor
- warfarin for cardiac thrombus
- endomyocardectomy (palliative)[2]
More general terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 755
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2015, 2018, 2022.
Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022 - ↑ Tefferi A, Gotlib J, Pardanani A Hypereosinophilic syndrome and clonal eosinophilia: point-of- care diagnostic algorithm and treatment update. Mayo Clin Proc. 2010 Feb;85(2):158-64 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20053713
- ↑ Klion AD. How I treat hypereosinophilic syndromes. Blood. 2015 Aug 27;126(9):1069-77. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/25964669 Free PMC Article