What is Gaucher’s disease?
Gaucher’s disease is an inherited condition in which your
body doesn’t correctly store fatty materials called lipids. Fatty substances can build up around your vital organs,
Gaucher’s disease is a metabolic disease. The fat
accumulation it causes affects how certain bodily systems function. The
condition is also called a lipid storage disorder.
and symptoms of the three types of Gaucher’s disease
You’re more likely to have type 1 Gaucher’s disease if
you’re of Ashkenazi Jewish descent. The other types of the condition can affect
people of all heritages equally.
Type 1 Gaucher’s disease is also called “non-neuropathic Gaucher’s
disease.” It’s the mildest form of the condition and the most common. The symptoms
of type 1 can begin in childhood or adulthood. They range in severity.
The symptoms of type 1 Gaucher’s disease include:
- bone pain
- bone breaks
- a swollen liver and spleen
- yellow spots in your eyes
Type 1 Gaucher’s disease is characterized by a low number of
platelets in your blood. This can lead to bruising, fatigue, and nosebleeds.
Children diagnosed with this form of the condition may experience delayed
puberty. Type 1 Gaucher’s disease doesn’t affect the brain.
Type 2 Gaucher’s disease is called “acute infantile
neuropathic Gaucher’s disease.” It’s the most serious form of the condition.
According to the National
Gaucher Foundation, type 2 Gaucher’s is fatal and typically causes death
before 2 years of age. Babies with this condition usually receive a diagnosis between
the ages of 3 and 6 months old.
Many of the symptoms of type 1 are also present in children
with type 2 Gaucher’s disease. Seizures and brain damage can also occur.
Type 3 Gaucher’s
disease is called “chronic neuropathic Gaucher’s disease.” Gaucher’s
disease is usually diagnosed during the teenage years. It’s a progressive form
of Gaucher’s disease. People with type 3 Gaucher’s experience liver and spleen
enlargement, which progresses more rapidly in type 3 than other types.
Brain damage can occur in type 3 Gaucher’s disease, but it
doesn’t affect everyone with this type. In some cases, it can lead to cognitive
impairments. Your eye movements and muscle coordination may also be affected.
Breathing problems may exist as well.
According to the National Gaucher
Foundation, the lifespan of adults with type 3 Gaucher’s disease is shorter
than the average adult, even with treatment. Adults with this condition usually
live into their 30s or 40s.
of Gaucher’s disease
A deficiency of the enzyme glucocerebrosidase causes
Gaucher’s. This enzyme is responsible for breaking down fatty substances in
your body. When you don’t make enough glucocerebrosidase, your body doesn’t
break down lipids properly. As a result, the lipids accumulate around your
Glucocerebrosidase deficiency is a genetic condition. The
gene is recessive, so both of your parents need to carry the gene for you to develop
Gaucher’s disease. If both of your parents are carriers of the gene but they
don’t have the disease themselves, you only have a 25 percent chance of
inheriting two copies of it. You have a 50 percent chance of inheriting one
copy of the gene, in which case you probably won’t develop symptoms. You have a
25 percent chance of inheriting no copies of the gene and not being a carrier yourself.
Your doctor can use blood work to measure your enzyme levels
to see if you have lower-than-normal levels of glucocerebrosidase. If you do,
they’ll perform a genetic analysis to confirm a diagnosis of Gaucher’s disease.
Genetic mutation screenings will help them determine if you have the gene for
the disease. It may also help them learn which type of the disease you have.
If you’re diagnosed with Gaucher’s disease, you may need
periodic testing to assess your condition. Your doctor can use imaging tools to
learn how your condition is progressing. They can use a dual-energy X-ray absorptiometry scan, which
is a special type of X-ray, to measure your bone density. They can also use an MRI scan to assess
the condition and size of your liver and spleen.
Treating Gaucher’s disease
Depending on the type of Gaucher’s disease you have, you may
be eligible for some treatment options.
Enzyme replacement therapy
Enzyme replacement therapy is the treatment for types 1 and
3 Gaucher’s disease. You’ll receive a dose of intravenous enzymes every two
weeks to boost your glucocerebrosidase levels. This will help reduce
inflammation of your liver and spleen. It will also promote better bone density.
However, enzyme replacement therapy doesn’t reverse brain damage sustained by
people with Gaucher’s disease.
Bone marrow transplants
If you have anemia or other signs of red blood cell
abnormalities, you may also require bone marrow transplants. In a bone marrow
transplant, you’ll undergo chemotherapy, radiation therapy, or both to kill
your existing bone marrow. Then, your doctor will transplant bone marrow cells
from a donor into your bone marrow. If the transplant is successful, these
cells will begin to grow and replace your bone marrow and blood.
Other treatment methods vary, according to the damage caused
by Gaucher’s disease. For example, if your joints are affected, you may need joint
replacement surgery to improve your mobility and quality of life. If you have
an enlarged spleen that doesn’t respond to enzyme replacement therapy, you may
need to have it surgically removed. In some cases, you may also benefit from
Type 2 Gaucher’s disease is fatal, usually causing death by
2 years of age. Enzyme replacement therapy may help improve your life
expectancy and qualify of life if you have type 1 or type 3 Gaucher’s disease. Other
treatments may also help you manage your condition and possible complications.
Ask your doctor about your specific condition, treatment options, and long-term
If you have Gaucher’s disease, your children are at higher
risk of inheriting the defective gene and having the condition. Genetic counseling
can help you and your partner assess your risk of having children with the