Looking for enzymes associated with Gaucher disease and two other disorders in the same dried blood sample is a good way to detect the disorders, a German and Austrian study reports.
The other lyposomal diseases that the simultaneous screening method detected were Niemann-Pick types A and B and lysosomal acid lipase deficiency.
Researchers presented their findings at the WORLDSymposium 2018 and published them in the journal Molecular Genetics and Metabolism. The title of their study is “Multiplexed testing for Gaucher disease, Niemann Pick disease types A and B and lysosomal acid lipase deficiency.”
Gaucher and the other two disorders have overlapping characteristics. The most important are enlarged livers and spleens and high levels of enzymes known as transaminases.
All three conditions affect the normal functioning of lysosomes, cell structures that digest food or break faulty down cell components.
The researchers wondered if simultaneously screening for all three was feasible. They used techniques known as tandem mass spectrometry and fluorometry to check dried blood samples for them.
Their study involved 1,600 samples from German and Austrian patients. The team obtained the samples from hospitals and specialists.
The screening showed that four of the 1,600 people who provided the samples had acid lipase deficiency, 12 had what appeared to be Gaucher disease, and three had what appeared to be acid sphingomyelinase deficiency.
A dried blood sample is obtained by pricking a person’s finger, heel or toe, and collecting a drop on a piece of absorbent paper. Technicians let the blood dry for several hours, then place it in a special bag to reduce humidity and keep the sample at a proper temperature.
Dried blood samples are often used for diagnosis tests. They are generally stable and can easily be shipped for analysis.
The researchers said there were problems with some samples. This indicated that some doctors and nurses need to be better trained in submitting samples, they said.
Despite the sample problems, the researchers said simultaneous “screening proved very effective in finding” Gaucher and the other diseases.
They added that the simultaneous approach was a good way “to avoid missing potential patients.”
