Easy diagnosis for Gaucher

Patients suffering from Gaucher and three other rare life-threatening genetic disorders now have an easy way to get diagnosed. The test called Dried Blood Spot Sampling (DBS) using only four drops of blood represents an alternative to the body fluid based method (plasma, liquid blood, or serum) and is available for free on demand in all private and government hospitals in Hyderabad.

The screening test uses enzyme activity to identify patients affected with the disorder before confirming the diagnosis and hence, recommending appropriate treatment. DBS scores over other conventional methods (blood or plasma samples) in terms of ease of collection, storage and transportation. It is particularly useful for screening rare disease patients in regions lacking specialised laboratories.

Highlighting on the advantages of the DBS test, Dr A Radha Rama Devi, Senior Consultant Paediatrician and In-Charge Genetic Division, Rainbow Hospitals said, “Not much blood is required for DBS testing. We need just few drop of blood to analyse the enzyme. Sample transportation is easy and can be sent to laboratory from anywhere in the country by post.”

Gaucher disease, a genetic metabolic disorder is a lysosomal storage disorder (LSD) caused due to deficiency of an enzyme called Glucocerebrosidase which breaks down lipids or basic fatty components in the body for releasing energy. The estimated prevalence of the disease is 1 in 1,00,000. Given the fact that the symptoms of Gaucher are difficult to identify, the ease and smartness of testing through DBS provides great convenience.

Dr Devi said, “LSDs are a large group of genetic disorders with overlapping symptoms and signs. Extensive clinical evaluation and biochemical testing is required for a diagnosis. Early diagnosis and early treatment prevents development of signs and symptoms of the diseases.”

Earlier, as part of ‘Gaucher disease awareness month’ Lysosomal Storage Disorders Support Society (LSDSS), an NGO working for the cause of rare disease patients urged the government to create a corpus fund to support medication of children suffering from rare genetic disorders.

The NGO is now appealing to doctors to make the DBS Diagnosis kits widely available to patients. Apart from Gaucher, DBS can also be used for diagnosis of three other lysosomal storage disorders (LSDs) namely Pompe, Fabry and MPS 1 diseases.