Recognising symptoms of Gaucher is crucial for timely and effective treatment, say experts


In the backdrop of International Gaucher Day, leading experts have laid emphasis on understanding the symptoms of this rare disease for timely diagnosis and treatment. 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 debilitating life and hence, it becomes necessary to recognise the symptoms to ensure that there is no delay in diagnosis and treatment.

Explaining about the disorder, Dr. Lalit Bharadia (Pediatric Gastroenterologist, Santokba Durlabhji Memoral Hospital (SDMH)), said, “Gaucher disease occurs due to the accumulation of some fatty substances in certain organs of the body, specifically in the spleen and liver. 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 fractures. 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.”

Some of the common symptoms of Gaucher include enlargement of spleen and liver, anaemia, slow growth in early childhood. Early diagnosis and appropriate treatment can allow an affected individual to lead a near normal life.

Elaborating Dr. Ashok Gupta (Superintendent, JK Lon Hospital) 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). It has been proven to be successful and has led to patients leading almost normal lives. The availability of proper screening tests and consequent treatment makes it imperative for the patients and also the medical fraternity to recognise the symptoms of this disorder.”

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 programs 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. Taking a step forward, a policy proposal for Rajasthan has already been developed. Further, Rajasthan is the first state which is providing formal education and patient support for LSDs”, added Dr. Gupta.

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