Lysosomal Storage Disorders Support Society

What is Gaucher Disease?

Gaucher (pronounced as go-shay) disease is a genetic disorder caused by the deficiency of an enzyme in the body, which results in a buildup of certain fatty substances in certain organs, particularly the spleen and liver. This causes these organs to enlarge and can affect their function.

 

The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

 

Types of Gaucher disease:

Type I Gaucher Disease

This is the most common form of this condition. Type I is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected.

 

Type II and Type III Gaucher

These types are known as neuronopathic Gaucher because they are characterized by problems that affect the central nervous system.

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Prevalence of Gaucher Disease

Gaucher is the commonest lysosomal storage disorder (LSD) with an estimated global incidence of 1: 40,000 to 1:60,000 live births. Due to the tradition of consanguineous marriages in parts of the country, it seems likely that the frequency of Gaucher may be higher in India.

What Causes Gaucher Disease?

Gaucher is caused by mutations in the GBA gene. It is inherited from parents, and both parents must be carriers of a mutated gene for Gaucher inheritance in the child.

 

If both parents are carriers if the mutated gene, there is a 25% chance of the child being affected by Gaucher.

 

If one parent is affected by Gaucher and the other is a carrier, there is a 50% chance of the child having the disease.

 

If both parents have the disease, there is a 100% chance of the child having the disease as well.

gaucher disease

What are the symptoms of Gaucher disease?

Symptoms vary with Gaucher Disease types, and the typical symptoms are as given below:

Type I:

  • Enlargement of the liver and spleen
  • Anemia
  • Easy bruising caused by a decrease in blood platelets
  • Lung disease
  • Bone abnormalities such as bone pain, fractures, and arthritis

 

Type II:

  • Poor development
  • Seizures
  • Spasticity (jerking movements)
  • Poor ability to suck and swallow
  • Enlarged liver and spleen

 

Type III:

  • Seizures
  • Skeletal irregularities
  • Eye movement disorders
  • Cognitive problems
  • Poor coordination
  • Enlarged liver and spleen
  • Respiratory problems
  • Blood disorders

Video Credit: Osmosis

Gaucher Disease

How is Gaucher disease diagnosed?

The diagnosis of Gaucher can be done through enzyme assay using dried blood spot (DBS) samples to check the levels of the associated enzyme. Genetic analysis can be done to reveal the responsible mutation.

Treatment for Gaucher disease

There is no cure for Gaucher. However, a variety of treatments, such as Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT), can help control symptoms, prevent irreversible damage and improve quality of life in Type-1 and Type-3 (there is currently no effective treatment for Type-2). The treatment is lifelong, imported, and extremely expensive, costing several lakhs to few crore rupees per year, depending on the patient’s body weight and dose required. Some patients in India are receiving free treatment for Gaucher through Charitable Access Programmes of a few pharmaceutical companies.

 

Following are the approved Enzyme Replacement Therapy for Gaucher Disease:

          • Cerezyme® (imiglucerase) by Sanofi Genzyme
          • VPRIV® (velaglucerase alfa) by Takeda
          • Elelyso® (taliglucerase alfa) by Pfizer

 

Following are the approved Substrate Reduction Therapy available for Gaucher:

          • Cerdelga® (eliglustat) by Sanofi Genzyme
          • Zavesca® (miglustat) by Actelion

 

For more detailed information, please refer to the Gaucher Information Booklet published by the International Gaucher Alliance (IGA) here.

 

Clinical trials:

To get information about ongoing/future clinical trials for Gaucher in India, click here.

 

If you or someone you know has been diagnosed with Gaucher, please contact us by filling out this form to get further information and support.

Frequently Asked Questions (FAQs)

Get answers to some of the frequently asked questions about Gaucher's disease!

Pronounced as go-shay disease, it is a genetic disorder caused by the deficiency of an enzyme, called glucocerebrosidase, in the body. This deficiency results in a buildup of certain fatty substances in certain organs, particularly the spleen and liver. This causes these organs to enlarge and can affect their function.

Gaucher’s disease can be fatal if left untreated. However, in type I Gaucher patients, proactive treatment can prevent or improve signs and symptoms, also reducing the risk of irreversible tissue and organ damage, enabling the patients to lead a near-normal life.

Patients with Gaucher disease type III have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s.

Gaucher type II is currently untreatable and involves severe neurological problems and also affects the organs that are involved in type 1. Because of the devastating brain damage, Gaucher disease type 2 is typically fatal within the first 2 years of life.

While there’s no cure for Gaucher’s disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don’t need treatment.

Research is ongoing for potential treatment options like gene therapy, which can provide a cure for Gaucher’s disease in future.

Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) ancestry are more likely to have Gaucher type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher.

Common manifestations of Gaucher include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets (thrombocytopenia), and skeletal abnormalities.

According to the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the mean life expectancy at birth of patients with Type 1 Gaucher has been reported as 68.2 years (63.9 years for splenectomised patients and 72.0 years for non-splenectomised patients), compared with 77.1 years in a reference population (>5000 phenotypically similar patients worldwide).

Type 2 Gaucher usually results in death within the first few years of life.

Patients with Type 3 Gaucher have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s.

Treatment for Gaucher is prohibitively expensive, costing anywhere from several lakhs to a few crore rupees per year, lifelong. A few companies have been providing this treatment free of cost to some patients in India under their charitable access programmes. However, at present, getting the treatment under charitable access is very difficult as the companies are not accepting any more patients. Nevertheless, you can get yourself/the patient enrolled on the waiting list for charitable treatable for Gaucher patients maintained by the International Gaucher Alliance (IGA) by filling up this form and sending it to tanya@gaucheralliance.org, with a copy to contactus@lsdssindia.org.

In addition, please get yourself/the patient enrolled on Government of India’s digital portal for crowdfunding and CSR donations for rare diseases by meeting the doctor at your nearest COE with all medical reports for medical evaluation. You can find the details of your nearest COE here.

In addition, please register yourself with the LSDSS by completing this form to get support and the latest information about the disease.