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- Title
Genomic investigation of inherited thrombotic microangiopathy—aHUS and TTP.
- Authors
Enjeti, Anoop K.; Malmanche, Theo; Chapman, Kent; Ziolkowski, Andrew
- Abstract
Thrombotic microangiopathies (TMA) are a heterogeneous group of red cell fragmentation syndromes characterized by a tendency for thrombosis and pathognomonic red cell fragments in peripheral blood, which results in thrombosis in the microvasculature due to endothelial damage. Genomic investigations into inherited TMAs are of diagnostic, prognostic and therapeutic value. Here, we present two cases that capture the importance of performing genomic testing in rare disorders. Treatment options for these conditions, such as plasma exchange and monoclonal antibodies against complement factors, are intensive and expensive health care interventions. The results of genomic investigation into rare TMAs can better inform the clinicians and their patients of prognosis and suitable personalized treatment options.
- Subjects
THROMBOTIC thrombocytopenic purpura treatment; HEMOLYTIC-uremic syndrome diagnosis; MEDICAL care costs; MONOCLONAL antibodies; PLASMA exchange (Therapeutics); THROMBOTIC microangiopathies; GENOMICS
- Publication
International Journal of Laboratory Hematology, 2020, Vol 42, p33
- ISSN
1751-5521
- Publication type
Article
- DOI
10.1111/ijlh.13201