Alternative Pathway of complement assay to diagnose atypical HUS and other disorders of complement activation

Atypical hemolytic uremic syndrome (aHUS) is a rare microangiopathic hemolytic anemia (MAHA) that often leads to renal failure, stroke and premature death(1). In most cases the disease is caused by genetic mutation in one of more than 6 genes that leads to increased activation of the alternative pathway of complement. Currently there is no good diagnostic assay for aHUS; thus, the disease is often confused with other MAHAs such as thombotic thrombocytopenic purpura (TTP), malignant hypertension, pre-eclampsia, disseminated intravascular coagulation, and catastrophic anticardiolipid syndrome. Making a prompt diagnosis is critical because aHUS is effectively treated by eculizumab, a drug that costs more than $20,000 dollars a dose(2). Thus, physicians and hospitals are understandably reluctant to release the drug without a more certain diagnosis. We have developed a simple, rapid, and inexpensive assay to reliably distinguish aHUS from other MAHAs within 1-2 days of clinical presentation.

Publication: Exp Hematol. 2016 May;44(5):390-8

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