We want you to get the care you deserve
1 in 40,000 live births in the general population are diagnosed with Gaucher disease
Individuals with rare diseases go on long diagnostic odysseys lasting many years before they receive a correct diagnosis. Gaucher disease is such a condition. With 1 in 40,000 live births in the general population affected with Gaucher disease and 1 in 800 in the Ashkenazi Jewish population. If you or a family member receive a diagnosis, you are not alone.
In this section, we’ll provide you with information to help and support you in gaining an understanding of Gaucher disease.
What is Gaucher disease?
Gaucher disease is a rare genetic disease passed down from parents to their children. It is caused by an enzyme deficiency in the lysosomes (the digestive system) within the cells.
When you have Gaucher disease, your body is missing the enzyme that breaks down fatty substances (lipids) in certain organs. These lipid-filled cells, also known as macrophages, collect in organs around the body. Most commonly
The liver
The spleen
The bone marrow
The lungs
As a result of the build-up of fatty substances within the cells, the organ(s) affected can enlarge and weaken, thus affecting their function.
It’s also important to remember that the inflammation can, in turn, have some effect on your immune system by triggering it. When this surpasses the normal level, it can lead to fibrosis and cancer, amongst other ailments.
Types of Gaucher disease
Gaucher disease type 1
This is the most common form of Gaucher disease, in which patients present with normal brain development but suffer from bone and organ problems. Symptoms can arise at any age with this type, ranging from childhood to late adulthood. More than 90% of affected persons in the US have type 1 Gaucher disease.
Gaucher disease type 2
This is extremely rare, affecting one in a million newborns. The symptoms of type 2 Gaucher disease generally present between the age of 3 to 6 months. With a life expectancy of two years due to severe neurological disease.
Gaucher disease type 3
Symptoms present in early to late childhood. With the classic signs of Gaucher disease and childhood-onset of neurological symptoms. However, the neurologic symptoms present are less severe than Gaucher disease type 2.
With newborn screening programs, we can diagnose Gaucher disease early. Ensuring optimal monitoring, and avoiding long diagnostic delays
What causes Gaucher disease and who does it affect?
Gaucher disease is a rare genetic condition. All human beings are carriers of several dozen rare diseases. Gaucher disease is an autosomal recessive disease. This means when two carriers (who are healthy with one Gaucher disease gene defect ) have a baby, there is a one in 4 chance of having a baby affected with Gaucher disease due to two copies of Gaucher gene defects.
In some instances, the parents may not show signs of being carriers because they may only have one GBA1 gene. Hence, it can go undetected.
Gaucher disease can affect anyone at any age. However, it is more common in the Ashkenazi Jewish (Eastern European) population, affecting 1 in 800 Jewish people.
The signs and symptoms of Gaucher disease
The type of symptoms a patient presents with will vary based on the type of Gaucher disease they have. Even then, patients with the same Gaucher disease type show very different symptoms. This is why my team and I at Yale Lysosomal Disease Center and Gaucher Disease Treatment Center approach each patient case individually. So we can provide you and your family with a tailored solution.
Symptoms of Gaucher disease
On a broader, more general level, common symptoms of Gaucher disease can include:
● Enlarged spleen
● Enlarged liver
● Feeling tired and lack of energy
● Anemia (low red blood cells)
● Easy bruising and low platelets
● Yellow spot in the eyes
● Bone pain and weakness (e.g., easily fractured bones)
● Painful bone crises
Ageing individuals with type 1 Gaucher are at risk of
● Parkinson disease
● Cancers (especially myeloma)
Also, people with type 2 and type 3 Gaucher disease have neurological symptoms such as
● Difficulty in eye coordination
● Balance
● Seizures
Diagnosis of Gaucher
Each person and their needs are unique. This is why, before we begin treatment, I take the time to carefully listen to and understand what you and your loved ones are experiencing. This involves
Asking you to describe your symptoms.
Asking you about and taking a look at your past and current health.
Discussing your family medical history.
Taking the necessary blood tests.
Treatment options for Gaucher disease
There are two main types of treatment. The solution we provide you will depend on the type of Gaucher disease you present with.
Enzyme Replacement Therapy (ERT):
This involves having enzyme infusions every two weeks to balance the levels of the missing enzyme in your body. This form of treatment is for Gaucher disease types 1 and 3. It’s essential to note that enzyme therapy cannot replace deficient enzymes in the brain. Thus it cannot help the neurological (brain) side of type 3 Gaucher disease.
This treatment has been transformative. Leading to an extraordinary reversal of the disease in the liver, spleen and blood counts.
Substrate Reduction Therapy (SRT):
Given in the form of oral medication, SRT helps to decrease the amount of glycolipid (glucocerebroside) the body makes, in turn, reducing excess buildup.
Having helped pioneer this form of treatment (approved by the FDA), we are happy to see impressive results compared to enzyme therapy.
Treatment of Gaucher disease
Getting advice
If you or a loved one has or is suspected to have Gaucher disease, please get in touch.
Our team will answer any questions you have, support, inform and guide you every step of the way.