KATHMANDU, OCTOBER 12

The Rare Diseases Society Nepal (RDSN) today organized a program to raise awareness about Gaucher Disease, one of the rarest diseases, in Kathmandu.

Gaucher disease is a rare genetic disorder characterized by an enzyme deficiency, resulting in the accumulation of glucocerebroside in cells of the macrophage-monocyte system.

Chairing the program, Nirmal Khadka, chairperson of RDSN, emphasized the significance of raising awareness about rare diseases in Nepal. Khadka said, 'The government should prioritize training for doctors in the field of rare diseases and the establishment of a genetic disorder testing laboratory within Nepal,' he added highlighting the current necessity to send expensive tests to India for diagnosing such diseases.

Dr. Suman Panthi, the World Health Organization (WHO) Nepal Representative, mentioned that WHO is actively focusing on raising awareness about rare diseases and collaborating closely with government agencies on treatment, diagnosis, and disease awareness in the country.

Gaucher disease

On the occasion, Dr. Asim Shrestha, a Pediatric Neurologist at Basbari Neuro Hospital, explained that Gaucher disease is rare, with a prevalence of 1 in 40,000 worldwide, although specific data for Nepal is not available.

He further said that It is commonly known as a lysosomal storage disorder, resulting from a deficiency of the enzyme glucocerebrosidase, and it is an autosomal genetic disorder.

In genetic terms, when couples from the same community carry detrimental gene mutations during pregnancy, there is a risk of passing the condition to their offspring. Gaucher disease is more commonly found in communities with a tradition of marrying within their own race, caste, or community, particularly prevalent in Jewish communities and Middle Eastern countries with a history of endogamy, Dr. Shrestha shared.

Causes of the Gaucher Disease

According to Dr. Shrestha, it is primarily caused by mutations in GBA (Glucocerebrosidase) gene. when mutations in the GBA gene are present, the enzyme's activity is reduced or nonfunctional, leading to the accumulation of glucocerebroside in various cells and tissues throughout the body. The accumulation of glucocerebroside in cells result in the characteristic sysmptoms and complicationss of Gaucher disease i.e. enlarged liver, spleen, neurological disorders.

Dr. Shrestha clarified that the mutation in the L44P gene can impact various aspects of the vascular and nervous systems, while mutations in the LP7S gene tend to predominantly affect organs such as the liver, spleen, bones, and other parts of the body.

Similarly, Dr. Rupesh Mishra, a clinical geneticist at Civil Service Hospital, mentioned that three confirmed cases have been diagnosed in Nepal, and he anticipates that there could be as many as 700 to 750 patients with the disease in the country.

Dr. Mishra outlined the three main types of Gaucher disease: Type 1, Type 2, and Type 3, each with its specific symptoms; and subtypes, including Perinatal lethal, characterized by dry skin symptoms, and cardiovascular diseases associated with calcification 0f valves.

Type 1 Gaucher Disease (Non-neuronopathic):

Enlarged liver and spleen (hepatosplenomegaly)

Low platelet and red blood cell counts (thrombocytopenia and anemia)

Bone pain and fractures

Fatigue and weakness

Easy bruising

Delayed growth in children

Type 2 Gaucher Disease (Acute Neuronopathic):

Severe neurological symptoms, including brain damage

Seizures

Muscle rigidity

Spasticity

Poor feeding and failure to thrive (in infants)

Dr. Mishra further added that it is a severe condition, and infants may not survive for long, with a maximum life span of 2 to 4 years. Early diagnosis is crucial to explore treatment options.

Type 3 Gaucher Disease (Chronic Neuronopathic):

Slower progression of neurological symptoms compared to Type 2

Seizures

Movement disorders

Cognitive impairment

Enlarged liver and spleen

Patients with Type 3 can live for thirty to forty years with these symptoms, Dr Mishra shared.

Diagnosis and treatment options,

Dr. Asim Shrestha said that various methods can be used including enzyme assays, gene testing, and bone marrow biopsy to look for Gaucher cells.

He also highlighted some common therapies, including enzyme replacement therapy with recombinant enzymes (cerezyme, vpriv), bone marrow transplantation, gene transfer therapy, and substrate replacement therapy with glucosylceramide synthase inhibitors (miglustat, eliglustat).

'These treatments can be effective if Gaucher disease has not affected the nervous system and can enhance the quality of life for patients,' Said Dr Shrestha.

Likewise, Dr Manju Shrestha, a consultant pediatrician, pointed out that the disease can have endocrine complications, further impacting the patients' quality of life.

On the concluding remarks, Dr. Rupesh Mishra stressed the importance of collective efforts from stakeholders, partners, and the government to improve the quality of life for patients with rare diseases in the country. He emphasized the need for enzyme and genetic testing in Nepal, despite challenges related to equipment, knowledge, and manpower.

Gaucher disease is one of the rare diseases among the approximately 7,000 rare diseases found worldwide, though a lack of data in Nepal makes it challenging to determine the exact number of rare diseases in the country.'