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Int Rev Thromb
2006[]; 1
(4
): 272-280
PMID26478757
show ga
ADAMTS13, encoded on chromosome 9q34, is a member of the ADAMTS (a disintegrin
and metalloprotease with thrombospondin type 1 motif) metalloprotease family,
containing the common domain structure of (from the amino terminus) signal
peptide, propeptide, reprolysin type metalloprotease, thrombospondin type 1
motif, cysteine-rich region, and spacer domain. ADAMTS13 cleaves von Willebrand
factor (VWF) in a shear stress dependent manner. Deficiency of the enzyme causes
the platelet aggregation of thrombotic thrombocytopenic purpura (TTP). Inhibitory
antibodies of ADAMTS13 are detected in patients with acquired TTP, while
homozygous or double heterozygous mutations of the ADAMTS13 gene cause the
hereditary form of the disease 1. Targeting of the ADAMTS13 gene by recombinant
technology has reproduced the phenotype of human TTP in ADAMTS13-null mice 2.
Despite these advances, intense controversy and confusion persist regarding the
role of ADAMTS13 assays in the diagnosis of TTP. This brief review highlights
some of the contentious issues and proposes steps to improve the diagnostic value
of ADAMTS13 assays.