Read on to learn more about the types, symptoms, treatment options, and outlook for people with Gaucher disease.
Gaucher disease, pronounced “go-shay” disease, is an inherited disorder that affects the production and function of an enzyme called glucocerebrosidase. This enzyme works within lysosomes to break down lipids in the body.
The enzyme deficiency causes lipids to build up in different areas of the body, especially in the liver, spleen, and bone marrow. This buildup is what causes Gaucher disease symptoms.
Gaucher disease is the most common genetic disease in the United States Ashkenazi Jewish population and the second most common lysosomal storage disorder.
There are three main types of Gaucher disease, though some researchers are beginning to see the condition as a spectrum of symptoms that vary greatly from person to person. The extent of the neurological symptoms distinguishes the three types.
The types are as follows:
- Gaucher disease type 1 (non-neuronopathic): This is the most common type of Gaucher disease. It has no neurological symptoms, meaning that it does not affect the brain or spinal column.
- Gaucher disease type 2 (acute neuronopathic): This type occurs in newborns and infants. The first symptom is usually an enlarged spleen. The first symptoms can begin before 6 months of age, with death typically occurring by 2 years of age.
- Gaucher disease type 3 (chronic neuronopathic): This type occurs in children, and the progression of the symptoms is slower. Children with Gaucher disease type 3 can live to be teenagers or into their 30s or 40s.
Mutations in the GBA gene are what cause Gaucher disease. The condition is an autosomal recessive gene disorder. This means that both parents must be carriers of the mutated GBA gene for their children to inherit the disease.
The symptoms of Gaucher disease and their intensity vary greatly among people. Some people have severe symptoms, while others have no symptoms at all.
Gaucher disease type 1
Common symptoms of Gaucher disease type 1 include:
- an enlarged liver or spleen
- easy bruising
- fatigue
- bone pain due to reduced blood supply
- bone weakness or deformity
Gaucher disease type 2
Common symptoms of Gaucher disease type 2 include:
- an enlarged spleen
- a decline in motor skills
- slow or stiff movements
- crossed eyes
- difficulty swallowing
- dry, scaly skin
- breathing issues
- swelling
Gaucher disease type 3
Common symptoms of Gaucher disease type 3 include:
- bone pain due to reduced blood supply
- bone weakness or deformity
- difficulty moving the eyes from side to side or up and down
- myoclonic seizures, which cause brief, shock-like muscle jerks
- scarring of the lungs
- mental deterioration
To diagnose Gaucher disease, your doctor will first perform a physical examination and assess your medical history.
According to the National Gaucher Foundation, doctors typically rely on two types of testing to confirm a diagnosis:
- A beta-glucosidase leukocyte test: Doctors use this blood test to check glucocerebrosidase activity.
- DNA testing: Doctors take either a blood or saliva sample to check for the presence of the genetic mutations that cause Gaucher disease.
If there is a family history of Gaucher disease, it is possible to make a prenatal diagnosis. To do this, doctors take either a sample of the fluid around the fetus or a tissue sample from the placenta. This testing cannot determine the type of disease present, but it can allow doctors to confirm a Gaucher disease diagnosis.
If Gaucher disease is present, genetic counseling can be beneficial for the affected individual and their family.
Because there is currently no cure for Gaucher disease, treatments typically focus on alleviating the symptoms and maintaining or improving quality of life.
Treatments may include:
- Enzyme replacement therapy: With this treatment, doctors administer IV drugs every 2 weeks. These drugs help replace glucocerebrosidase in your body. This therapy is most effective for people with Gaucher disease type 1, though it can also help alleviate certain physical symptoms in people with Gaucher disease type 2 or 3.
- Substrate reduction therapy: This treatment involves taking capsules or tablets that block the production of fatty substances in your body, making it more difficult for them to build up.
- Other treatments: Certain people may require blood transfusions, joint replacement surgery, or the removal of all or part of the spleen.
The complications of Gaucher disease can differ among the types.
People with Gaucher disease type 1, for example, may have a higher risk of developing some cancers with tumors, Parkinson’s disease, and blood diseases, such as multiple myeloma.
People with Gaucher disease type 2 or 3 may experience severe neurological complications, such as Parkinson’s disease and seizures.
The outlook for people with Gaucher disease depends on the type they have.
With treatment, people with Gaucher disease type 1 can lead long lives. Gaucher disease type 2 is typically fatal before age 2 years, and people with Gaucher disease type 3 generally have shorter adult life expectancies.
Gaucher disease is a group of rare inherited metabolic disorders that affect the body’s ability to break down fatty substances. Gaucher disease type 1 is treatable, while types 2 and 3 typically lead to severe symptoms and premature death.
There is currently no cure available for Gaucher disease. Treatments include enzyme replacement therapy and substrate reduction therapy, which can help alleviate the symptoms and improve quality of life.
Talk with your doctor to learn more about Gaucher disease and how to treat it.
