Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.
The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures. If the bone marrow is affected, it can interfere with your blood's ability to clot.
An enzyme that breaks down these fatty substances doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.
An inherited disorder, Gaucher disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.
There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common.
Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.
Most people who have Gaucher disease have varying degrees of the following problems:
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.
If you or your child has the signs and symptoms associated with Gaucher disease, make an appointment with your doctor.
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. Two carriers have a 25% chance of having an unaffected child with two normal genes (left), a 50% chance of having an unaffected child who also is a carrier (middle), and a 25% chance of having an affected child with two recessive genes (right).
People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.
Gaucher disease can result in:
During a physical exam, your doctor will press on your or your child's abdomen to check the size of the spleen and liver. To determine if your child has Gaucher disease, the doctor will compare your child's height and weight to standardized growth charts.
He or she might also recommend certain lab tests, imaging scans and genetic counseling.
Blood samples can be checked for levels of the enzyme associated with Gaucher disease. Genetic analysis can reveal whether you have the disease.
People diagnosed with Gaucher disease typically require periodic tests to track its progression, including:
You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease.
While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.
Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you'll need to be monitored will depend on your situation.
Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:
If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest:
Having any chronic illness can be difficult, but having a rare disease like Gaucher can be even harder. Few people know about the disease, and even fewer understand the challenges you face. You might find it helpful to talk to someone else who has the Gaucher disease or someone who has a child with the disease. Talk to your doctor about support groups in your area.
You're likely to start be seeing your primary care provider. Then you might be referred to a doctor who specializes in blood disorders (hematologist) or to a doctor who specializes in inherited disorders (geneticist).
Before the appointment, you may want to write a list of answers to the following questions:
Your doctor might ask questions, including: