Unusual Myelodysplastic Syndrome with the Initial Presentation Mimicking Idiopathic Thrombocytopenic Purpura

Abstract

Idiopathic thrombocytopenic purpura (ITP) and primary myelodysplastic syndrome (MDS) are hematological disorders that are frequently associated with thrombocytopenia, and both are heterogeneous disorders of uncertain etiology. Their diagnosis requires the exclusion of other hematological or immunological disorders whose diagnosis is usually not difficult. However, in some patients presenting with thrombocytopenia, the differential diagnosis is complex. We performed a retrospective study of 47 consecutive patients treated between 1990 and 2001; in 25 patients the initial diagnosis was ITP, in 22 it was MDS; we compared their backgrounds, laboratory data and clinical outcomes. Among the 25 ITP patients, there were 5 confusing cases. Following treatment, they presented with inexplicable refractory anemia and/or neutropenia. Cytopenia, the polyploidization pattern of megakaryocytes, and chromosomal aberrations were of diagnostic relevance in these patients’ defective hematopoiesis. Their cytopenia progressed relatively slowly and none progressed to leukemic transformation. We suggest that these 5 patients should be classified into an unusual subtype of MDS with clinical characteristics resembling ITP.

Idiopathic thrombocytopenic purpura (ITP) in the elderly: clinical course in 178 patients

“…A second disease was diagnosed in 19 of our 178 patients: six patients (3.3%) developed a malignancy; five (2.8%) developed MDS; six (3.3%) an other autoimmune disease; and two (1.2%) MGUS. The occurrence of other autoimmune pathologies, lymphoproliferative disorders and MDS among patients with a first diagnosis of ITP has also been reported by other authors, especially in elderly patients (15)(16)(17)(18)(19). However, the frequency and the probability of developing other pathologies did not significantly differ when comparing the treated patients to those who were never treated.…”

“…In the patients who developed lymphoproliferative disorders, MDS, and MGUS, bone‐marrow aspirate, performed at diagnosis, showed morphologic patterns consistent with the diagnosis of ITP. These data confirm that an adequate follow‐up of elderly ITP patients is very important and that bone marrow aspirate or biopsy should be performed not only at diagnosis but also during follow‐up, if clinically indicated (18). Moreover, regarding the likelihood of developing MDS, it must be considered that autoimmune mechanisms are involved in the pathogenesis of both ITP and MDS (20), so that the occurrence of both MDS and autoimmune diseases is not rare (2).…”

Antiretroviral activity of 5-azacytidine during treatment of a HTLV-1 positive myelodysplastic syndrome with autoimmune manifestations

“…There are several reports in the literature correlating various autoimmune manifestations such as leukocytoclastic vasculitis [7], relapsing polychondritis [8], polyarteritis nodosa, Grave's disease, Sjögren's syndrome [9], Wegener's granulomatosis [10], bronchiolitis obliterans [11], autoimmune hemolytic anemia [12], and thrombocytopenia [13,14], red cell aplasia [15], dermatomyositis [16], peripheral polyneuropathy and inflammatory bowel disease [17], giant cell arteritis/polymyalgia rheumatica [18,19], and Addison's disease [20]. …”

Diagnostic application of flow cytometric characteristics of CD34+ cells in low-grade myelodysplastic syndromes

“…35,36 Therefore, MDS cannot be diagnosed based on FAB and WHO classifications. In such patients, del(20q) is a common cytogenetic aberration, and trisomy 8 is not uncommon.…”