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Genomic investigation of inherited thrombotic microangiopathy—aHUS and TTP
Author(s) -
Enjeti Anoop K.,
Malmanche Theo,
Chapman Kent,
Ziolkowski Andrew
Publication year - 2020
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.13201
Subject(s) - thrombotic microangiopathy , atypical hemolytic uremic syndrome , medicine , pathognomonic , thrombosis , monoclonal antibody , monoclonal , immunology , pathology , antibody , complement system , disease
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.