Symptoms of Gaucher disease can vary greatly from person to person depending on the type of Gaucher disease that a person has.
Gaucher disease is a rare inherited metabolic disorder. Symptoms and physical findings associated with Gaucher disease can vary greatly from person to person depending on the type of Gaucher disease a person has. It may impact your:
For some types, symptoms develop in childhood. For other types, symptoms may not develop until adulthood.
Read on to learn more about the symptoms of Gaucher disease.
Symptoms of Gaucher disease in adults vary widely. Some people have severe symptoms and others may have mild or no symptoms.
Because there are many different symptoms of Gaucher disease and the presentation of symptoms can be different from person to person, it may take a long time to get an accurate diagnosis. A doctor may first suspect Gaucher disease if you bruise easily or have bleeding symptoms.
In addition to bruising easily, other signs or symptoms may include:
- enlarged liver
- enlarged spleen
- swollen stomach (caused by the enlarged organs)
- bone pain or frequent fractures
- yellow spots in your eyes
- respiratory issues (rare)
Symptoms of Gaucher disease in newborn babies may include:
- enlarged spleen
- loss of motor skills
- muscle spasms
- weak muscles
- crossed eyes
- trouble swallowing
- failure to gain weight or grow as expected
- high-pitched breathing
- skin issues, like collodion skin (a membrane covering the skin at birth)
Conditions similar to Gaucher disease in newborns include:
To confirm a diagnosis for each of these different conditions, a doctor will use a combination of physical examination, laboratory testing, and genetic analysis.
There are five different types of Gaucher disease. Some occur in adults, while others occur in newborns and infants. Symptoms of the disease can vary depending on the Gaucher type.
Gaucher disease type 1 is the most common type — about 90% of people with Gaucher disease have type 1. It’s most common in Ashkenazi Jews.
It’s also called non-neuronopathic Gaucher disease because people with this type of Gaucher disease have normal brain development. It occurs in both children and adults and is caused by not having enough platelets in your blood. People with a mild form of the disease may not have any symptoms.
Type 1 is treatable, but not curable. It may increase your risk for:
Type 2 Gaucher disease is also called acute infantile neuropathic Gaucher disease. It affects newborns and infants, and symptoms usually appear by the time a child is 3 months old.
This type of Gaucher disease is caused by the accumulation of glucocerebroside in the brain. This causes severe neurological symptoms, such as:
- trouble swallowing
- muscle issues
- respiratory issues, such as pneumonia
Skin abnormalities and generalized swelling, known as hydrops, may be present in newborns who are severely affected by type 2 Gaucher disease.
Type 3 Gaucher disease is generally between type 1 and type 2 in terms of severity. Symptoms usually appear before age 10 and often before age 2.
Type 3 Gaucher disease is also known as chronic neuronopathic Gaucher disease.
Like type 2 Gaucher disease, it causes neurological symptoms, but these symptoms progress much more slowly in people with type 3. The severity of neurological symptoms also varies much more in people with type 3 Gaucher disease.
Type 3 Gaucher disease is treatable but usually leads to a shortened life expectancy. Some people may only live into their 20s, while others may live into their 50s. People with this condition may need assistance with daily life as they get older and neurological symptoms progress.
Also known as fetal-neonatal Gaucher disease, perinatal-lethal Gaucher disease is a very severe form of this condition. This is also the least common type.
This type of Gaucher disease causes fluid buildup throughout the body, bleeding in the brain, skin scaling, and fixed joints. It’s very severe and generally causes death before or shortly after birth.
The cardiovascular form of Gaucher disease mostly affects the heart and causes heart valves to harden. It can also cause symptoms similar to those of type 1, including bone disease, spleen enlargement, and eye issues.
Your doctor may suspect that you have Gaucher disease if you have anemia that isn’t otherwise explained and bruise easily, especially if you also have bone fractures. However, symptoms are not enough to make a diagnosis of Gaucher disease.
To confirm diagnosis of Gaucher disease, your doctor may do the following tests and research:
- a physical exam
- your medical history, including a history of your symptoms
- your family history, since Gaucher disease is genetic
- an enzyme assay, also called a BGL blood test, to look for acid beta-glucosidase in your blood cells or skin cells
- genetic tests using blood or saliva, if your blood tests show low enzyme activity (these tests look for the mutations that cause Gaucher disease and can confirm a diagnosis)
Gaucher disease symptoms vary widely from person to person. When they appear in adulthood, they usually cause unexplained bleeding and bruising, a swollen stomach from an enlarged spleen and liver, bone fractures, and more. In newborns, Gaucher disease can cause severe neurological symptoms.
If you have unexplained bruising or bleeding, or if you have bone pain or fractures, talk with your doctor, especially if you have a family history of Gaucher disease or any of its symptoms. They can run tests to find an accurate diagnosis and the treatment you may need.