Timely gaucher diagnosis key to effective treatment

On the occasion of International Gaucher Day, leading experts from the city laid emphasis on timely diagnosis and treatment of the rare disease. They also said that the treatment can be accessed by all the patients, but the implementation of individual state policies is important. It is worth mentioning here that a policy proposal for Rajasthan has already been developed.

Gaucher is a type of Lysosomal Storage Disorder (LSD) which is a group of around 50 inherited rare diseases. The patients suffering from gaucher often lead a miserable life and hence, it becomes necessary to recognise the symptoms to ensure that there is no delay in diagnosis and treatment. In Rajasthan, a policy proposal for appropriate treatment and diagnosis of rare diseases has already been submitted in 2015. “There are some patients who are getting treatment under charitable programmes and are leading normal lives. In order to ensure that the treatment can be accessed by the rest of the patients, government intervention is required. In this regard, the implementation of individual state policies is important. A policy proposal for Rajasthan has already been developed and it is the first state which is providing formal education and patient support for LSDs,” Dr Ashok Gupta, Superintendent, JK Lon Hospital said.

Some of the common symptoms of gaucher include enlargement of spleen and liver, anaemia, slow growth in early childhood. “Gaucher disease occurs due to accumulation of some fatty substances in certain organs of the body, specifically in the spleen and liver,” Dr Lalit Bharadia, Pediatric Gastroenterologist at Santokba Durlabhji Memorial Hospital (SDMH) said. “This causes the enlargement of these organs affecting their normal functioning. These substances can also build up in the body’s bone tissues which weakens the bones and increases the risk of fracture. The reason for the accumulation of fatty substances is that the enzyme that breaks them down does not work properly when a person is suffering from gaucher,” he added.

Elaborating on the issue Dr Gupta said, “It is important to remember that timely recognition of symptoms can help in improving the quality of life of a patient. The good news is that treatment is available for this rare condition which is called Enzyme Replacement Therapy (ERT). The availability of proper screening tests and consequent treatment makes it imperative to recognise the symptoms of this disorder.”

What’s Gaucher 

Gaucher is a type of LSD which is a group of around 50 inherited rare diseases. Gaucher patients often lead a tough life and hence, it becomes necessary to recognise the symptoms to ensure there is no delay in diagnosis and treatment.