What is it about?
We aimed to develop a TMA diagnosis workflow based on ADAMTS13 activity and screening of ADAMTS13 and complement genes using a custom next-generation sequencing (NGS) gene panel. For this, from a cohort of 154 Portuguese patients with acute TMA, the genotype–phenotype correlations were analyzed in seven hereditary TTP (ADAMTS13 activity < 10%, no inhibitor), 36 acquired TTP (ADAMTS13 activity < 10%, presence of an inhibitor), and in 34 presumable aHUS.
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Why is it important?
Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging.
Perspectives
Our study provides evidence of the usefulness of the NGS panel as an excellent technology that enables more rapid diagnosis of TMA, and is a valuable asset in clinical practice to discriminate between TTP and aHUS.
Dr Teresa Fidalgo
Read the Original
This page is a summary of: Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing, Research and Practice in Thrombosis and Haemostasis, June 2017, Wiley,
DOI: 10.1002/rth2.12016.
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Contributors
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