Genomic investigation of inherited thrombotic microangiopathy—aHUS and TTP. (15th June 2020)

• Record Type: Journal Article
• Authors: Enjeti, Anoop K.; de Malmanche, Theo; Chapman, Kent; Ziolkowski, Andrew
• Is Part Of: International journal of laboratory hematology. Volume 42(2020)Supplement 1
• Page Start: 33
• Page End: 40
• Publication Date: 2020-06-15
• Subjects: aHUS -- genomic -- mutations -- thrombotic microangiopathy -- TTP; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Hematology -- Periodicals; 616.15005
• DOI: 10.1111/ijlh.13201
• Languages: English
• ISSNs: 1751-5521

Abstract

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.