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Diagnostic Criteria for Myeloid Neoplasms with Myelodysplasia

Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by clonal proliferation of hematopoietic stem cells, recurrent genetic abnormalities, myelodysplasia, ineffective hematopoiesis, peripheral-blood cytopenia, and a high risk of evolution to acute myeloid leukemia (AML). Continue reading “Diagnostic Criteria for Myeloid Neoplasms with Myelodysplasia”

WHO Diagnostic Criteria for Prefibrotic or Early-Stage Myelofibrosis (pre-PMF)

Prefibrotic myelofibrosis (pre-PMF) is a distinct entity among chronic myeloproliferative neoplasm diagnosed according to the revised WHO classification. The clinical picture is heterogeneous, ranging from isolated thrombocytosis, mimicking essential thrombocythemia (ET), to symptoms of high-risk PMF. Continue reading “WHO Diagnostic Criteria for Prefibrotic or Early-Stage Myelofibrosis (pre-PMF)”

Diagnosis and Severity Criteria for Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease in Children

Hepatic sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) that belongs to a group of diseases increasingly identified as transplant-related, systemic endothelial diseases. In most cases, SOS/VOD resolves within weeks; however, severe SOS/VOD results in multi-organ dysfunction/failure with a mortality rate >80%. Continue reading “Diagnosis and Severity Criteria for Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease in Children”

Diagnostic Criteria for Primary Myelofibrosis (PMF)

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. Continue reading “Diagnostic Criteria for Primary Myelofibrosis (PMF)”

Diagnostic Criteria for Essential Thrombocytosis (ET)

Essential Thrombocytosis (ET) is the only chronic myeloproliferative disorder (MPD) without a specific phenotype. Because isolated thrombocytosis can be the initial clinical manifestation of polycythemia vera (PV), primary myelofibrosis (PMF), or chronic myelogenous leukemia, ET is not only a diagnosis of exclusion, it should also not be considered a single disease entity. Continue reading “Diagnostic Criteria for Essential Thrombocytosis (ET)”

Criteria for the Diagnosis of POEMS Syndrome

POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell disorder (PCD). The acronym, which was coined by Bardwick in 1980, refers to several, but not all, of the features of the syndrome: polyradiculoneuropathy, organomegaly, endocrinopathy, monoclonal PCD, and skin changes. Continue reading “Criteria for the Diagnosis of POEMS Syndrome”

Revised IMWG Diagnostic Criteria for Multiple Myeloma

This International Myeloma Working Group consensus updates the disease definition of multiple myeloma to include validated biomarkers in addition to existing requirements of attributable CRAB features (hypercalcaemia, renal failure, anaemia, and bone lesions).

Continue reading “Revised IMWG Diagnostic Criteria for Multiple Myeloma”

Diagnosis of Porphyria

The porphyrias are disorders of heme synthesis, which has eight steps. Each type of porphyria involves a defect, either inherited or acquired, in a pathway enzyme. When the defect is physiologically significant, it results in overproduction of pathway precursors preceding the defective step which enter the circulation and are excreted into urine or bile. The diseases have been grouped as acute hepatic porphyrias and photocutaneous porphyrias. The acute porphyrias are due to hepatic overproduction of the porphyrin precursors, delta aminolevulinic acid and porphobilinogen, and the symptoms are caused by injury primarily to the nervous system. Cutaneous porphyria is due to overproduction of photosensitizing porphyrins by the liver or bone marrow, depending on the type of porphyria.
Continue reading “Diagnosis of Porphyria”

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