Deepak Singh, Rapid Response Haemostasis Manager, UCLH RRL recently represented Sonic Healthcare UK at an Educational Symposium event which focused on the diagnosis, monitoring and treatment of TTP, sponsored by Alexion / AstraZeneca Rare Disease unit.
Thrombotic Thrombocytopenic Purpura is a rare, life-threatening blood disorder and is a potential diagnosis in any patient with haemolytic anaemia and thrombocytopenia. 90 percent of cases are fatal if left untreated. It is characterised by a severe deficiency of the von Willebrand factor (VWF) cleaving protease called ADAMTS13.
Sonic Healthcare UK in collaboration with UCLH has been at the forefront of developing and modifying a fluorescence resonance energy transfer (FRETS)-VWF73 assay (initially adapted from Kokame et al, Japan) to provide rapid and accurate ADAMTS13 results for diagnoses and monitoring of these patients.
Deepak explains,
“As the main centre of patient treatment and diagnosis in the UK, we were invited to share our knowledge and experience in this rare and fatal condition. We addressed the diagnostic challenges and evidence available in translational medicine to bridge research and clinical practice. We covered various aspects on testing and monitoring TTP patients using the ADAMTS13 assay, including new technologies in diagnostics, and the challenges in current practice.”
It’s a difficult condition to diagnose, with other microangiopathic haemolytic anaemia’s that present with similar clinical symptoms. They all require very different treatment strategies where a wrong diagnosis can seriously exacerbate the condition. There is no other test for the diagnosis so it’s important to get it right.
Setting the gold standard
“We looked at all the different testing platforms and assessed it against ours which is now regarded as the gold standard. A number of commercial platforms of this assay have been released to market but the results can be very inconsistent, and potentially offer incorrect diagnoses. We’re working with manufacturers to ensure their tests produce clinically concordant results.
Our presentation highlighted the need for continual monitoring of people with this condition, as relapses are common.Our lab is also working towards utilising new ADAMTS13 assays to detect potential relapse cases for early medical intervention.”
The development of these tests is another example of how Sonic Healthcare UK’s commitment to leading edge scientific research can transform lives.