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- Title
The Challenge for a Correct Diagnosis of Refractory Thrombocytopenia: ITP or MDS with Isolated Thrombocytopenia?
- Authors
Kosmidou, Aikaterini; Gavriilaki, Eleni; Tragiannidis, Athanasios
- Abstract
Simple Summary: The aim of the present review is to summarize the main characteristics of immune thrombocytopenia (ITP) and to determine cases where persistent, isolated thrombocytopenia is misclassified as ITP. One of the most common misdiagnoses of ITP is myelodysplastic syndrome presented with thrombocytopenia as an isolated abnormality (MDS-IT). As MDS-IT has been poorly described in the literature, the precise characterization of patients with MDS-IT is essential and the extend diagnostic, clinical and laboratory work-up is necessary for determining which of the cases of persistent thrombocytopenia are refractory and which of them have mistakenly been attributed to a diagnosis other than MDS-IT. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by isolated thrombocytopenia. It is diagnosed in patients with a platelet count below 100,000 per cubic millimeter in whom other causes of thrombocytopenia have been ruled out, and its diagnosis is generally one of exclusion. Clinical manifestations of patients may vary from asymptomatic disease to mild mucocutaneous or life-threatening bleeding. Glucocorticoids are used as first-line treatment for ITP, while other second-line medications, mainly thrombopoietin-receptor agonists (TPO-RA) and rituximab, are given to patients in whom ITP does not remit, or relapses soon after glucocorticoid treatment. Refractoriness of ITP strongly questions its diagnosis and necessitates a thorough clinical and laboratory work-up to decide whether that is the case of refractory ITP or a misdiagnosis. The aim of this review is to summarize the conditions associated with isolated thrombocytopenia and highlight the characteristics of confusing cases. Even though the case of a myelodysplastic syndrome presented with isolated thrombocytopenia (MDS-IT) is relatively rare and not well-established in the literature, it constitutes one of the most predominant misdiagnoses of refractory ITP. MDS-IT patients are thought to present with multilineage dysplasia, normal karyotype and low risk prognostic score, based on IPSS-R. It has been shown that a significant proportion of MDS-IT patients are misdiagnosed as having the more common ITP. Therefore, it is crucial that in confusing cases of persistent thrombocytopenia a detailed diagnostic work-up is applied—including evaluation of peripheral-blood smear, bone marrow examination and cytogenetic testing—to avoid unnecessary therapy delay.
- Subjects
THROMBOPENIC purpura diagnosis; MYELODYSPLASTIC syndromes; BONE marrow examination; CYTOGENETICS; DIFFERENTIAL diagnosis; PLATELET count; SYMPTOMS; DIAGNOSTIC errors; RITUXIMAB; THROMBOCYTOPENIA; KARYOTYPES; GLUCOCORTICOIDS; CELL receptors
- Publication
Cancers, 2024, Vol 16, Issue 8, p1462
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers16081462