Schnitzler syndrome: an under-diagnosed clinical entity

Jain, Tania; Offord, Chetan P.; Kyle, Robert A.; Dingli, David

doi:10.3324/haematol.2013.084830

Cited by 46 publications

(75 citation statements)

References 15 publications

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“…12 In this study, plasma cell burden reached 18% in patient A, and up to 15% in one of the reported cases. 2 The other two cases (patients B and C) had plasma cell percentages at levels of monoclonal gammopathy of undetermined significance (o10%), similar to POEMS and Schnitzler syndromes, [13][14][15] and other previously reported TEMPI cases. 1,[3][4][5] Although renal dysfunction has been described in one patient, 4 none of the patients with TEMPI syndrome fulfill criteria for plasma cell myeloma.…”

Section: Discussionmentioning

confidence: 89%

Bone marrow findings of the newly described TEMPI syndrome: when erythrocytosis and plasma cell dyscrasia coexist

et al. 2015

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TEMPI syndrome (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) is a recently described syndrome that, owing to erythrocytosis, may be confused with polycythemia vera. It is best classified as a type of plasma cell dyscrasia with paraneoplastic manifestations, similar to POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin abnormalities). To date, 11 patients have been identified. This is the first morphologic review of TEMPI syndrome bone marrow samples, in order to define pathologic features that may aid in the recognition of the syndrome and to identify post-therapy changes. Seven bone marrow aspirates and biopsies from three patients, including two post-treatment marrows, were examined. Patients were 36, 49, and 49 years old at time of diagnosis. In all cases, erythropoietin levels were extremely elevated at 45000 IU/l, the paraprotein was IgG kappa, JAK2 V617F was negative and vascular endothelial growth factor levels were normal. In one case, the increase in clonal plasma cells reached levels of smoldering myeloma (18%), but remaining marrows showed few monoclonal plasma cells (o5%). All pre-treatment biopsies showed erythroid hyperplasia, with mild nonspecific megakaryocytic, and erythroid cytologic atypia in one marrow. Prominent plasma cell vacuolization and reactive-appearing lymphoid aggregates were noted in one case. Findings of myeloproliferative neoplasms, including megakaryocyte clusters and fibrosis, were not identified. In conclusion, TEMPI syndrome should be considered when erythrocytosis and plasma cell dyscrasia coexist. The bone marrow findings, although nonspecific, differ significantly from polycythemia vera. Peculiar clinical and laboratorial findings of TEMPI, including elevated erythropoietin and normal vascular endothelial growth factor level, allow the diagnosis and distinction from POEMS syndrome. Significant decrease in erythropoietin level following treatment suggests a role of erythropoietin in monitoring therapeutic response.

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Section: Discussionmentioning

confidence: 89%

Bone marrow findings of the newly described TEMPI syndrome: when erythrocytosis and plasma cell dyscrasia coexist

et al. 2015

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“…4,6 In one series, arthralgias were reported in 68% of patients, while bone pain has been reported in 63%. A systematic radiologic analysis of a cohort of 22 patients suggested that the most commonly affected bones were the distal femur and the proximal tibia followed by the innominate bone.…”

Section: Introductionmentioning

confidence: 99%

“…3 Angioedema is unusual and is seen in less than 10% of patients. 3,6 Fever In one series, 75% of patients developed fever that was associated with significant fatigue. 6 The fever may be quite high, reaching 40°C, although it rarely is associated with chills.…”

Section: Introductionmentioning

confidence: 99%

“…3,6 Fever In one series, 75% of patients developed fever that was associated with significant fatigue. 6 The fever may be quite high, reaching 40°C, although it rarely is associated with chills. 7 There is no direct relationship between the fever and the skin rash, and in time, patients seem to get used to the recurrent pyrexia, perhaps due to the relative lack of associated chills, sweats (25%), and rigors.…”

Section: Introductionmentioning

confidence: 99%

“…Typically, patients are in the sixth decade of their life at diagnosis (ranging from 30 to 76 years in one series), and men are affected slightly more than women (1.2:1). 6 Although the syndrome is well defined, unfortunately, it is almost certainly underrecognized, with the consequence that there tends to be a considerable delay, often of 5-6 years between the onset of symptoms and proper diagnosis that ultimately leads to correct therapy that can literally transform the life of patients with this syndrome. and proximal extremities are mainly affected, while the face, neck, hands, and feet are very rarely affected by the rash.…”

Section: Introductionmentioning

confidence: 99%

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Schnitzler syndrome: clinical features and histopathology

Dingli¹,

Camilleri²

2015

PLMI

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Schnitzler syndrome is a rare and underrecognized syndrome characterized by chronic urticaria, a monoclonal protein, and a variety of other symptoms, including fever, bone pain, organomegaly, and evidence of an acute phase response. Biopsy of an involved area of the skin shows a neutrophilic infiltrate without evidence of vasculitis or hemorrhage. Although the etiology of the syndrome is unknown, current evidence suggests this is an autoinflammatory syndrome. Recognition of this syndrome is critical since it is highly responsive to anakinra.

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