Diagnosing aHUS
Atypical Haemolytic Uraemic Syndrome (aHUS) can be difficult to diagnose because it is a rare disease and has a wide range of symptoms that are similar to those of other diseases, including fatigue or tiredness, pale skin and sleepiness or drowsiness.1-3,6 Kidney failure is one of the most common symptoms, which can be one of the early signs that help diagnose aHUS.3,6
Doctors will assess a patient’s symptoms and perform a number of different tests to exclude the possibility of other diseases and to confirm the diagnosis of aHUS.1-3,5
To establish an accurate diagnosis of aHUS, a number of tests may be performed.1–3,5 Some of these potential tests are listed below:
A healthcare professional will review a patient’s blood count to determine the number of red blood cells and platelets.1–3,5
Blood testing can confirm a diagnosis of aHUS by determining the level of the enzyme lactate dehydrogenase (LDH). A high level of LDH indicates organ
damage.1–3,5
damage.1–3,5
A healthcare professional will review a patient’s kidney function by measuring the level of a protein called creatinine and determining the estimated glomerular filtration rate (eGFR). These tests can indicate how well the kidneys are working.1–3,5
Genetic tests can be carried out to look for gene mutations known to affect the complement system. Although identifying mutations in complement genes is not required for aHUS diagnosis, it can be helpful for informing prognosis and for long-term management decisions.1-3,5
aHUS, atypical haemolytic uremic syndrome; TMA, thrombotic microangiopathy