Sleeping sickness finding could lead to earlier diagnosis

Sleeping sickness creates a metabolic 'fingerprint' in the blood and urine, which could enable a new test to be developed to diagnose the disease, according to new research published today in the journal Proceedings of the National Academy of Sciences.

Sleeping sickness, or human African trypanosomiasis, is usually fatal if it is not diagnosed and treated in time. The disease is newly detected in around 30,000 people in sub-Saharan Africa every year. Researchers estimate that the real number of cases is likely to be around ten times this number, as so few patients are accurately diagnosed.

Sleeping sickness is typically passed on through a bite from an infected tsetse fly, which transmits a subspecies of a parasite known as Trypanosoma brucei into the bloodstream.

The new study shows that, in a mouse model, infection with the parasite creates distinct metabolic 'fingerprints' in the blood and urine and that these fingerprints are different at different stages of the disease. This fingerprint was visible in the blood as early as one day after infection.

The researchers, from Imperial College London and institutions in Switzerland and the USA, hope that their findings could ultimately enable a fast and accurate test to be developed so that people can be tested and treated more quickly, improving their chances of survival.

Sleeping sickness is currently difficult to diagnose because its symptoms, which in its first stage include headache, weakness, and joint pain, are shared by many other conditions. The disease is found in over 20 countries in sub-Saharan Africa and doctors there rarely have the resources to carry out the necessary diagnostic tests or to treat infected cases.

Doctors have to use both a blood test and a lymphatic fluid test, using a needle inserted into the lymph node, in order to confirm a positive diagnosis. They then use a painful and invasive lumbar puncture to work out which stage the disease has reached, in order to select the best drug for treatment.

It is important to catch the disease as early as possible in order to give the patient a chance of recovering. In the second stage of the disease, when the parasite progresses into the patient's brain, doctors have to use a different, less effective set of drugs. One of these drugs, melarsoprol, can cause devastating side-effects, such as a brain disease, or encephalopathy, which causes fatality in 50 percent of cases.