A hypereosinophilic syndrome mimicking rheumatoid arthritis

Brogadir, Stuart; Goldwein, Manfred I.; Schumacher, H. Ralph

doi:10.1016/0002-9343(80)90456-8

Cited by 27 publications

(9 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The best-characterized examples in the FrenchAmerican-British classification of AML are M4Eo inv (16) Musculoskeletal N/A Arthritis, 79,80 effusions, 80 bursitis, 81 synovitis, 82 Raynaud phenomena, 83 digital necrosis, 84 polymyositis/myopathy 85,86 Renal N/A Acute renal failure with Charcot-Leyden crystalluria, 87 nephrotic syndrome, 88 immunotactoid glomerulopathy, 89 crescentic glomerulonephritis 90 Modified from Weller and Bubley 21 and from Brito-Babapulle 17 with permission from Elsevier. N/A indicates not available.…”

Section: Cytogenetic and Molecular Features Of Hematologic Malignancimentioning

confidence: 99%

The FIP1L1-PDGFRα fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management

Gotlib

Cools

Malone

et al. 2004

Blood

262

205

View full text Add to dashboard Cite

Idiopathic hypereosinophilic syndrome (HES) and chronic eosinophilic leukemia (CEL) comprise a spectrum of indolent to aggressive diseases characterized by unexplained, persistent hypereosinophilia. These disorders have eluded a unique molecular explanation, and therapy has primarily been oriented toward palliation of symptoms related to organ involvement. Recent reports indicate that HES and CEL are imatinib-responsive malignancies, with rapid and complete hematologic remissions observed at lower doses than used in chronic myelogenous leukemia (CML). These BCR-ABL-negative cases lack activating mutations or abnormal fusions involving other known target genes of imatinib, implicating a novel tyrosine kinase in their pathogenesis. A bedside-to-benchtop translational research effort led to the identification of a constitutively activated fusion tyrosine kinase on chromosome 4q12, derived from an interstitial deletion, that fuses the platelet-derived growth factor receptor-␣ gene (PDGFRA) to an uncharacterized human gene FIP1-like-1 (FIP1L1). However, not all HES and CEL patients respond to imatinib, suggesting disease heterogeneity. Furthermore, approximately 40% of responding patients lack the FIP1L1-PDGFRA fusion, suggesting genetic heterogeneity. This review examines the current state of knowledge of HES and CEL and the implications of the FIP1L1-PDGFRA discovery on their diagnosis, classification, and management. IntroductionProtean biologic and clinical presentations characterize idiopathic hypereosinophilia (HES). HES is similar to other diseases given the moniker "diagnosis of exclusion," in that limited understanding of the pathogenesis of the disease has hampered therapeutic advances. The demonstration of increased myeloblasts or clonality or the development of either granulocytic sarcoma or acute myeloid leukemia helps clarify the origin of some cases of chronic eosinophilic leukemia. 1 In a subset of patients, hypereosinophilia is related to excessive secretion of eosinophilopoietic cytokines from a clonal population of lymphocytes. 2 The identification of FIP1-like-1-platelet-derived growth factor receptor-␣ (FIP1L1-PDGFRA) in cases of HES/CEL adds to a growing list of activated fusion tyrosine kinases linked to the pathogenesis of chronic myeloproliferative disorders. 3 It is unique, however, because it is the first description of a gain-of-function fusion protein resulting from a cryptic interstitial deletion between genes rather than a reciprocal chromosomal translocation. The FIP1L1-PDGFR␣ fusion protein transforms hematopoietic cells, and its kinase activity is inhibited by imatinib at a cellular 50% inhibitory concentration (IC 50 ) 100-fold lower than BCR-ABL. 3 Acquisition of an imatinib resistance mutation in the adenosine triphosphate (ATP)-binding domain of PDGFRA in a relapsed patient previously responsive to imatinib supports a critical role for FIP1L1-PDGFR␣ in the pathogenesis of disease and demonstrates that FIP1L1-PDGFR␣ is the therapeutic target of imatinib. 3 The identification of t...

show abstract

Section: Cytogenetic and Molecular Features Of Hematologic Malignancimentioning

confidence: 99%

The FIP1L1-PDGFRα fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management

Gotlib

Cools

Malone

et al. 2004

Blood

262

205

View full text Add to dashboard Cite

show abstract

“…Worldwide, parasitic diseases are the most common cause, whereas in developed countries, allergic diseases are the most common cause [7]. Although rheumatologic manifestations of HES are infrequent, several previous reports showed HES association with an inflammatory joint disease mimicking RA [3,[8][9][10]. Furthermore, Tay [11] described 10 patients from Singapore with acute polyarthritis and marked hypereosinophilia of unknown etiology.…”

Section: Discussionmentioning

confidence: 99%

“…The articular involvement represented soft tissue and synovial fibrinoid degeneration with eosinophilic infiltration. Brogadir et al [8] reported a case of articular involvement in HES and suggested that this could be one of a multitude of cases of hand deformity resembling rheumatoid arthritis. In our case, we suspected HES-induced arthritis based on the gradual onset of ankle pain, but since the patient also complained about concomitant knee and wrist pain, we evaluated anti-CCP antibody and RF levels and these findings further supported our diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Hypereosinophilic Syndrome Associated with the Onset of Rheumatoid Arthritis: A Case Report

et al. 2017

View full text Add to dashboard Cite

Idiopathic hypereosinophilic syndrome (HES) is a disorder characterized by the sustained overproduction of eosinophils and multiple organ damage. Rheumatologic manifestations of HES are infrequent, but persistent eosinophilia is observed in approximately 10% to 40% of patients with rheumatoid arthritis (RA). This finding may be a result of the RA itself and is often associated with active disease and the presence of extra-articular features. We describe the case of a 48-year-old man affected by HES who subsequently developed RA. Both HES and RA responded rapidly to the corticosteroid and methotrexate therapy. In this patient, the initiation of RA and HES was related, suggesting a common pathogenetic link between these two diseases. (J Rheum Dis 2017;24:165-168)

show abstract

“…Painful migratory subcutaneous nodules and peripheral blood eosinophilia have additionally been reported in cutaneous myiasis caused by the larvae of Hypoderma lineatum [3]. The hypereosinophilic syndrome (HES) may be associated with articular involvement which can mimic rheumatoid arthritis, includ-ing the presence of subcutaneous nodules [4,5]. Finally, a diverse list of nodular skin disorders including Kimura's disease, angiolymphoid hyperplasia with eosinophilia, epithelioid hemangioma [6][7][8], nodular scabies [9, !0] and a disorder of nodular eosinophilic infiltration of the skin and immunoglobulin isotype imbalance [II] have all been reported to have associated tissue and/or peripheral blood eosinophilia.…”

Section: Introductionmentioning

confidence: 99%

Nodules, eosinophilia, rheumatism, dermatitis and swelling (NERDS): a novel eosinophilic disorder

Butterfield

Leiferman

Gleich

1993

Clin Experimental Allergy

View full text Add to dashboard Cite

This study presents the clinical and laboratory findings of a novel syndrome associated with eosinophilia. Two young women presented with marked eosinophilia, and large, non-tender compressible articular nodules arising from the tenosynovium of extensor tendons, dermatitis, episodic swelling of the hands and/or feet and pain in adjacent muscles and joints. Tissue specimens were examined by routine haematoxylin and eosin staining, immunofluorescent staining for eosinophil granule major basic protein (MBP) and rhodamine-avidin or tryptase staining for mast cells. Plasma levels of MBP and eosinophil-derived neurotoxin (EDN) were quantitated by immunoassay. The first patient presented in 1967 at the age of 20 and had, in addition to nodules and eosinophilia, dermographism, recurrent episcleritis and axillary urticaria. Biopsy of a nodule showed tenosynovitis with necrotizing granulomas, non-specific vasculitis, eosinophils and eosinophil degranulation as shown by extracellular deposition of eosinophil granule MBP. Her symptoms responded to low-dose, alternate-day prednisone and have remained quiescent over the past 15 yr. The second patient presented in 1990 at the age of 28 with generalized pruritic dermatitis for 15 yr, eosinophilia for 2 yr, subcutaneous nodules and non-limiting pain in several joints. Biopsy of a nodule showed chronic mild tenosynovitis, numerous eosinophils and extracellular deposition of MBP. She remains untreated. Serum IgE values and plasma levels of MBP and EDN were elevated in both patients; mast cells were numerous in their synovial tissue. Based on their clinical courses, these patients reveal the existence of a distinctive, relatively benign eosinophilic disorder with good long-term prognosis.

show abstract

A hypereosinophilic syndrome mimicking rheumatoid arthritis

Cited by 27 publications

References 13 publications

The FIP1L1-PDGFRα fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management

The FIP1L1-PDGFRα fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management

Hypereosinophilic Syndrome Associated with the Onset of Rheumatoid Arthritis: A Case Report

Nodules, eosinophilia, rheumatism, dermatitis and swelling (NERDS): a novel eosinophilic disorder

Contact Info

Product

Resources

About