scholarly journals Thrombotic microangiopathy associated with hematopoietic stem cell transplantation: general characteristics and an example from clinical practice

Author(s):  
E. B. Machneva ◽  
M. A. Bolokhonova ◽  
T. Z. Aliev ◽  
D. V. Shevtsov ◽  
A. M. Suleymanova ◽  
...  

Associated hematopoietic stem cell transplantation (HSCT) or transplant-associated thrombotic microangiopathy (TA-TMA) is currently a generally recognized and severe complication of HSCT with a high risk of mortality. TMA is characterized by microangiopathic hemolytic anemia and thrombocytopenia, resulting in the accumulation of platelets in the microvasculature, which leads to dysfunction of the ischemic organ. The pathogenesis of TА-TMA is based on endothelial damage by various trigger factors (in particular, chemotherapeutic agents in the conditioning regimen, the use of calcineurin inhibitors, alloreactivity, infectious agents). The article presents the peculiarities of terminology, pathogenesis and clinical manifestations of TA-TMA, methods of therapy for this pathology. Examples of management of patients with TA-TMA are demonstrated using a clinical example.

Blood ◽  
2010 ◽  
Vol 116 (1) ◽  
pp. 27-35 ◽  
Author(s):  
Victoria Bordon ◽  
Andrew R. Gennery ◽  
Mary A. Slatter ◽  
Els Vandecruys ◽  
Genevieve Laureys ◽  
...  

Abstract Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood (∼ 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.


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