Expert review of hematology
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Catastrophic antiphospholipid syndrome (CAPS) is a rare, life-threatening disease. In 1992, Asherson defined it as a widespread coagulopathy related to the antiphospholipid antibodies (aPL). CAPS requires rapid diagnosis and prompt initiation of treatment. ⋯ Expert commentary: CAPS is a rare variant of the antiphospholipid syndrome (APS). It is characterized by thrombosis in multiple organs and a cytokine storm developing over a short period, with histopathologic evidence of multiple microthromboses, and laboratory confirmation of high aPL titers. This review discusses the diagnostic challenges and current approaches to the treatment of CAPS.
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Sickle cell disease (SCD) is the most common inherited hemoglobinopathy in the world, with the majority of cases in sub-Saharan Africa. Concomitant nutritional deficiencies, infections or exposure to environmental toxins exacerbate chronic anemia in children with SCD. The resulting relative anemia is associated with increased risk of strokes, poor cognitive function and impaired growth. ⋯ Expert commentary: Anemia due to nutritional deficiencies and infectious diseases such as helminthiasis and malaria are prevalent in sub-Saharan Africa. Their co-existence in children with SCD increases morbidity and mortality. Therefore, preventing, diagnosing and treating the underlying cause of this relative anemia will improve SCD-related outcomes in children in sub-Saharan Africa.
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Precise assessment of response to therapy is of high importance in every phase of multiple myeloma (MM). In addition to the well-established role of monoclonal protein for clinical monitoring, several methods of minimal residual disease evaluation, both inside and outside the bone marrow (BM), are to date available. ⋯ Functional whole-body MRI techniques (DCE and DWI) seem promising for response evaluation and need further studies. Standardization of most of these techniques is in progress.
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About 20-40% of patients with multiple myeloma (MM) will present with some degree of renal impairment (RI) and about 25% of patients will experience RI at later disease stages. Patients with MM and RI have poorer overall survival and are at higher risk of early death. ⋯ The mechanisms of acute renal damage in MM are covered and the issues around diagnosis and renal evaluation response are discussed. The importance of optimal supportive care is stressed and the role and effectiveness of different anti-myeloma agents covered including the role of high cut-off hemodialysis, autologous stem cell transplantation and kidney transplant. Expert commentary: Outcomes of patients with RI and rates of renal recovery have improved with the use of novel anti-myeloma agents. Bortezomib-dexamethasone backbone regimes (±third agent) are the current first choice in newly diagnosed patients. In relapsed/refractory disease additional treatment options include newer novel agents.
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Richter transformation (RT) represents an aggressive transformation of chronic lymphocytic leukemia (CLL), most commonly into diffuse large B cell lymphoma (DLBCL). It occurs in around 5% of patients with CLL. ⋯ This review will focus on the biology and treatment of RT. We also address the management of RT in the era of targeted therapies. Based on clonal relationship of large cell component to CLL, 2 distinct subtypes could be identified: clonally-related RT which carries a worse outcome, and clonally-unrelated RT where the outcomes are similar to de novo DLBCL. Aberrations of TP53, CDKN2A, MYC, and NOTCH1 are common in RT, many of which are acquired at the time of transformation. PET scan remains the imaging modality of choice for patients with suspected RT. It is important to perform a biopsy rather than fine needle aspiration (FNA) of the suspicious lesions, as FNA can lead to false negative results. Chemoimmunotherapy remains the treatment of choice, though the outcomes remain suboptimal. The median survival is less than 1 year. Novel therapies are needed for patients with RT. Expert commentary: RT remains an unmet medical need; the role of targeted therapies, including immunotherapy needs to be explored.