Doctors Stand in Support for Patients Suffering from Gaucher disease

Doctors, patients and their families gather to raise awareness for Gaucher disease patients in Kolkata.

Gaucher Awareness Programme, an initiative championed by the Lysosomal Storage Disorder Support Society (LSDSS) was organized in Kolkata to raise awareness for Gaucher disease patients. The Chief Guest Dr. Debashish Bhattacharya, Director Medical Education, West Bengal Department of Health services; Dr. Apurba Ghosh, Director, Institute of Child Health; Dr. Monjori Mitra, Institute of Child Heath; Mr. Sib Sankar Chowdhury, Joint Secretary, LSDSS; Mr. Saurabh Singh, Designation, LSDSS and Mr. Shashank Tyagi, Secretary, LSDSS were present on this occasion and addressed the program.

An estimated 40 people in West Bengal suffers from a rare disease out of which 20 patients are of Gaucher disease. Several rare disease patients and their families were present at the event to draw attention to the challenges faced by rare disease patients, especially children, and the urgency for governments and other institutions to recognize their unique needs and create enabling policies and a more supportive environment for them.

Mr. Sib Sankar Chowdhury, Joint Secretary, LSDSS, and father of LSD patient, says: “There are around 250+ patients in India are suffering from Gaucher disease in which 20 diagnosed children are form West Bengal only. In West Bengal we have written to West Bengal Department of Health Services about the National Policy for Treatment of Rare Disease and the State Technical committee. LSDSS have met and written to Union Health minister Dr. Harsh Vardhan asking him to provide an interim assistance till the National Policy for Treatment of Rare Diseases (NPTRD) is implemented. Government should start diagnosing the rare disease child at early age. Many undiagnosed LSD patients are also there in the state due to lack of awareness about the diseases. We have asked State Govt. to start new-born screening project in every Govt. Hospital. The mechanism of prenatal testing must be there at every District Head Quarter level at West Bengal.”

LSDSS also laid strong emphasis on Government to release pledged Rs. 100 crores for the treatment of patients and implement National Policy for Treatment of Rare Diseases 2017, which had been withheld by the Government. According to LSDSS, the prevalence rate for Gaucher Disease in India is 1 in 1,00,000 patients. Under Lysosomal Storage Disorders – India has been recording the prevalence of Hunter Syndrome, Gaucher Disease and Fabry Disease. Due to availability of diagnostic blood test, there has been a drastic increase in the registered number of Gaucher patients.

What is Gaucher?

Gaucher disease (GD) is the most common disorder among Lysosomal storage disorders (LSD) worldwide and in India. Lysosomal storage disorders are a group of more than 40 inherited metabolic disorders characterized by impaired lysosomal function leading to accumulation of substrates within the organelle. GD is caused due to a metabolic defect i.e., Deficiency of an enzyme called Glucocerebrosidase caused due to genetic changes(mutations) in the gene responsible for its production (GBA1/Acid-B-glucosidase gene). This results in accumulation of the substrate (glucosylceramide) in the lysosomes of macropahges leading to a wide spectrum of manifestations.

Three types of GD have been described based on clinical features, ethnicity and natural history of the disease: Type I GD, the most common type; Type II GD/Acute Neuronopathic GD/Infantile Cerebral GD which comprises about 1% of GD patients; & Type III is a chronic neuronopathic form.


The signs of Hemophilia A and B are the same: enlargement of the liver and spleen (hepatosplenomegaly), anaemia and pancytopenia, ecchymosis\ body patches and easy bruising caused, in part, by a low level of platelets and bone disease (bone pain and fractures).


India guidelines are available for management of Gaucher Disease. Enzyme Replacement Therapy (ERT) is the therapy of choice. If ERT is not available then another option is Bone Marrow Transplantation (BMT), though opinion on this is divided and data limited. Blood transfusion is beneficial as supportive measure and is to be given regularly. Splenectomy is no longer routinely recommended.

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