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 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 of Hemophagocytic Lymphohistiocytosis (HLH)

Hemophagocytic lymphohistiocytosis (HLH) is a frequently fatal and likely underdiagnosed disease involving a final common pathway of hypercytokinemia, which can result in end-organ damage and death.
Although an early diagnosis is crucial to decrease mortality, the definitive diagnosis is often challenging because of the lack of specificity of currently accepted diagnostic criteria and the absence of confirmatory gold standards. Continue reading

Diagnostic Criteria of Langerhans Cell Histiocytosis (LCH)

The diagnosis of Langerhans Cell Histiocytosis (LCH) is based on histological and immunophenotypic examination of lesional tissue. The main feature is the morphologic identification of the characteristic LCH cells. Additionally, positive staining of the lesional cells with CD1a and/or Langerin (CD207) is required for definitive diagnosis. Continue reading

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

Revised IMWG Diagnostic Criteria for Multiple Myeloma

The International Myeloma Working Group (IMWG) 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

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.

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Indications for Transfusion of Platelets

Platelet transfusion may be indicated to prevent hemorrhage in patients with thrombocytopenia or platelet function defects.

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WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues

The World Health Organization classification of lymphoid neoplasms updated in 2008 represents a worldwide consensus on the diagnosis of these tumors and is based on the recognition of distinct diseases, using a multidisciplinary approach.

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