Gaucher disease is a rare genetic disorder that causes the buildup of fatty substances in certain organs. Type 1 is the most common type of Gaucher disease, but it’s the least severe and has the most favorable outlook.
Gaucher disease is a rare genetic disease. People with Gaucher disease have an enzyme deficiency that leaves their cells unable to properly break down fatty molecules called lipids. The resulting buildup of fatty waste products can cause several symptoms.
There are three main subtypes of Gaucher disease, each with different symptoms and outcomes. Type 1 is the most common form in the United States, representing more than
Gaucher disease type 1 is also called non-neuropathic Gaucher disease because it doesn’t affect your neurological system. But it can affect several other organ systems.
While there’s no cure for Gaucher disease, you or your child can effectively manage symptoms with the help of expert care.
Symptoms of Gaucher disease type 1 may vary depending on your age.
Gaucher disease type 1 symptoms in adults
Gaucher disease symptoms can vary a lot from person to person. In adults with Gaucher disease type 1, common signs and symptoms include:
- bone disease (bone pain, osteopenia, arthritis, avascular necrosis)
- enlarged liver and spleen
- low blood counts (anemia, low platelets, low white blood cell count)
- easy bruising and bleeding
- clotting problems
- fatigue
- yellow-brown skin discoloration
- gallstones
- lung disease (interstitial lung disease, pulmonary arterial hypertension)
With increasing age, there is an increased risk of:
- neurologic disease (Parkinson’s disease, dementia, peripheral neuropathy)
- certain cancers (myeloma, leukemia, lymphoma)
Gaucher disease type 1 symptoms in children
Gaucher disease type 1 doesn’t usually cause symptoms during infancy, though some newborns receive the diagnosis during routine newborn screening blood tests.
As children grow, early signs and symptoms of Gaucher disease type 1 may include:
- low blood counts
- easy bruising and bleeding
- enlarged liver and spleen
- bone pain
- fatigue
- slow growth
- delayed puberty
When do symptoms of Gaucher disease appear?
The age at onset of Gaucher disease type 1 can vary greatly from person to person, but symptoms most often start in adolescence.
The typical age at symptom onset differs for each type of Gaucher disease:
- Type 1: presents at a median age of
10–20 years , but some people don’t have symptoms until adulthood - Type 2: presents in early infancy, usually by 3–6 months of age
- Type 3: presents in early childhood
Gaucher disease is a genetic disorder caused by changes in the GBA1 gene on chromosome 1. This gene encodes an important enzyme called glucocerebrosidase (GCase), which is responsible for helping your cells break down fatty molecules called lipids.
In Gaucher disease, genetic mutations cause a GCase enzyme deficiency. Lipids then build up inside your cells, damaging them.
Research has found more than 300 different GBA gene mutations linked with Gaucher disease type 1. This variety is part of the reason for the person-to-person differences in the onset and symptoms of Gaucher disease type 1.
Genetic mutations can either happen at random or be inherited. Gaucher disease is usually inherited in an autosomal recessive pattern. This means people with Gaucher disease are born with two copies of the mutated GBA1 gene that causes the disease — one from each biological parent.
People with one copy of the mutated gene are carriers for Gaucher disease. This means they do not have the disease themselves but can pass the mutated gene to any biological children they have.
People with a family history of Gaucher disease are at greatest risk of developing it. Tell a doctor if you have a known family history of Gaucher disease, especially if you’re planning to have children.
Gaucher disease type 1 is also significantly
How common is Gaucher disease type 1?
Gaucher disease is the most common of the
The authors of a 2023 research review estimate that the overall incidence of Gaucher disease type 1 in the United States ranges from
But Gaucher disease type 1 is much more common in the Ashkenazi Jewish population, affecting about 1 in 450 live births. Experts estimate that about 1 in 18 people in the Ashkenazi Jewish population carry the GBA gene mutation.
When doctors suspect Gaucher disease, they can order the beta-glucosidase leukocyte blood test to check for reduced GCase enzyme activity.
Gene sequencing can also identify known mutations associated with Gaucher disease.
In some states, screening for Gaucher disease is part of the routine newborn screening blood test.
Although there’s no known cure for Gaucher disease,
- Enzyme replacement therapy (ERT) supplements the GCase enzyme, allowing your cells to break down those lipids. ERT can help prevent or reduce bone disease, improve blood counts, and decrease organ enlargement. You receive it by intravenous (IV) infusion about every 2 weeks.
- Substrate reduction therapy (SRT) is a daily oral medication that decreases your production of the lipids that build up. This reduces the change of fatty waste product buildup. SRT is an option for adults who can’t or don’t want to receive ERT.
Depending on your specific circumstances, a doctor may also recommend the following treatments:
- blood transfusions
- vitamin supplements and osteoporosis medication
- physical therapy
- pain medication
- surgery (such as splenectomy or joint replacement)
- stem cell transplant
Additional research into
People with Gaucher disease type 1 can expect a
Treatment can help people stay active and reduce symptoms. In particular, starting ERT or SRT early can help reduce or even prevent irreversible organ damage.
With advancing age, people with Gaucher disease type 1 have a slightly increased risk of Parkinson’s disease, certain types of dementia, and some cancers. Your doctor will monitor you for complications associated with Gaucher disease.
Gaucher disease type 1 is the non-neuropathic, milder form of Gaucher disease.
Unlike types 2 and 3, Gaucher disease type 1 is not associated with progressive neurological impairment.
Genetic counseling and Gaucher disease
If you’re trying to conceive, a genetic counselor can help you understand the risks to you and your baby and how you might be able to decrease your chance of passing on the genetic mutation.
A doctor may refer you to a genetic counselor if:
- you have a family history of Gaucher disease
- genetic tests show that you carry the gene for Gaucher disease
- you have received a Gaucher disease diagnosis
Gaucher disease is a rare autosomal recessive genetic disorder. People with Gaucher disease have an enzyme deficiency that results in a buildup of lipid waste products, damaging several organs.
Gaucher disease type 1 is the most common type in North America and Europe. It’s especially common in people of Ashkenazi Jewish heritage.
Type 1 is the mildest form of Gaucher disease. It’s also called non-neuropathic Gaucher disease because it doesn’t affect your nervous system. Symptoms begin later in type 1 than in other types.
While there’s no cure, effective treatment is available. With early diagnosis and treatment, you can expect to live a full and active life with Gaucher disease type 1.
