An accumulation of fatty chemicals in your organs is the result of a rare hereditary disorder called Gaucher disease. The most prevalent subtype's symptoms may not manifest at all until adulthood.
A mutation in the GBA gene results in Gaucher disease, which is pronounced go-SHAY. Since it's a recessive disorder, you can only get it if both of your parents carry the corresponding GBA mutation.
The National Gaucher Foundation estimates that 1 in 40,000 births are affected.
The fatty compound glucocerebroside is broken down by an enzyme called glucocerebrosidase, which is encoded by GBA. Individuals suffering from Gaucher disease experience an accumulation of glucocerebroside in various organs, including their:
- liver
- spleen
- bone marrow
Continue reading to find out more about who is most at risk of getting Gaucher disease and how common it is.
Is Gaucher disease a rare condition?
There are minor differences in how rare diseases are defined in different nations. When a disease affects less than 200,000 persons in the US or around 1 in 1,660 people, it is classified as uncommon. A disease is deemed rare by the European Union if it affects fewer than 1 in 2,000 persons.
According to both criteria, Gaucher disease is uncommon. According to several research, the prevalence ranges from 1 in 17,241 to 1 in 256,410 births.
How many types of Gaucher disease are there?
There are three primary subtypes of Gaucher disease:
- Type 1: Gaucher disease type 1 is the most prevalent. The symptoms can appear at any age and account for approximately 94% of cases.
- Type 2: From birth, type 2 causes major issues that impact the central nervous system, including difficulty regulating voluntary movement. By age 2, it frequently results in death.
- Type 3: Although type 3 usually advances more slowly than type 2, it still creates issues with the central nervous system. Although it may start in the first two years of life, many people continue to live into their 20s or 30s.
The following are possible signs of Gaucher disease:
| Type 1 | Type 2 | Type 3 |
|---|---|---|
| loss of bone mass (osteopenia) | problems with speaking, swallowing, or controlling the jaw | seizures |
| enlarged spleen and enlarged liver | enlarged spleen and enlarged liver | enlarged spleen and enlarged liver |
| low blood cell counts | low blood cell counts | oculomotor apraxia |
| lung disease | lung disease | lung disease |
| weakness, stiffness in the muscles, difficulty coordinating voluntary movements | progressive myoclonic epilepsy | |
| skin problems |
How common is Gaucher disease?
The frequency of Gaucher disease has been estimated differently in different research. According to earlier research, the following frequencies are listed for each live birth:
- 1 in 17,241 in an Austrian study
- 1 in 43,479 in the United States (Missouri)
- 1 in 100,000 in a Spanish study
- 1 in 250,000 in a Moroccan study
- 1 in 256,410 in a Canadian study
- 1 in 333,333 in a Japanese study
- 1 in 57,000 people in an Australian study
- 1 in 86,207 in a Dutch study
- 1 in 88,496 in a Czech study
Gaucher disease types 2 and 3 are thought to affect 1 in 100,000–300,000 live births.
Who is most likely to get Gaucher disease?
People of Ashkenazi Jewish heritage, a group of Jews who historically resided in Eastern and Central Europe, are most commonly affected by Gaucher disease.
This ethnic group has a gene for Gaucher disease in roughly 6% of its members, and 1 in 855 of them gets the illness.
What causes Gaucher disease?
A GBA gene mutation results in Gaucher disease. Being a recessive hereditary disorder, it requires a defective gene from both parents for you to get sick.
There is a: if both parents carry the gene.
- The infant has a 1 in 4 risk of having Gaucher disease.
- One in two chances of becoming a carrier
- There is a 1 in 4 possibility they won't get the illness or be a carrier.
How do doctors diagnose this rare disease?
To confirm the diagnosis, your doctor could advise obtaining a blood test if you have a family history of the condition or if you exhibit typical symptoms. Given a sample of your blood, doctors can use two different methods to check for Gaucher disease:
- Enzyme test: An enzyme test almost always indicates whether you have Gaucher disease, according to the Gaucher Disease Foundation. This test quantifies the activity of the glucocerebrosidase enzyme, which is encoded by the GBA gene.
- Genetic test: A sample of your saliva or blood can be used by doctors to determine whether you have the GBA gene mutation linked to Gaucher disease.
Treatments for Gaucher disease
Although there is no known cure for Gaucher disease, there are two forms of treatment that can lessen symptoms and physical harm to the body:
- Enzyme replacement therapy: With enzyme replacement therapy, your body receives an IV replacement of the missing enzyme approximately every two weeks, enabling it to break down the fatty compound glucocerebroside present in your organs and bone marrow.
- Substrate reduction therapy: Reducing the body's production of glucocerebroside is the goal of substrate reduction therapy. It is taken orally to administrate it.
Takeaway
Gaucher illness is an uncommon ailment characterised by the accumulation of glucocerebroside, a fatty material, within the body. The most prevalent subtype of Gaucher disease is type 1. The incidence of it is estimated to occur in approximately 1 in 40,000 infants, however, figures differ throughout the research.
Gaucher diseases type 2 and 3 are far less common and typically appear in early childhood or infancy. They frequently result in worsening symptoms that impact the brain and spinal cord and may even cause early death.
FAQs
Is Gaucher disease a rare disease?
Gaucher disease is a rare genetic disorder
How common is Gaucher disease in India?
1 in 2,500 to 1 in 5,000
Is Gaucher disease life ending?
When receiving enzyme replacement therapy, adults with the type 1 variant of Gaucher disease can anticipate living a normal life.
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