Definition of Glucocerebrosidase deficiency (Gaucher’s disease)
Gaucher’s (go-SHAYZ) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to become much larger than normal and can affect their function.
The fatty substances associated with Gaucher’s disease also can build up in bone tissue. This weakens the bone and increases 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 who have Gaucher’s disease. Treatment often includes enzyme replacement therapy.
An inherited disorder, Gaucher’s disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.
Symptoms of Glucocerebrosidase deficiency (Gaucher’s disease)
Signs and symptoms of Gaucher’s disease can vary widely. Siblings, even identical twins, with the disease may have different levels of severity. Some people who have Gaucher’s disease have no symptoms at all.
Most people who have Gaucher’s disease experience varying degrees of the following problems:
- Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities. Gaucher’s disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher’s disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher’s disease can affect the brain, which may cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher’s disease begins in infancy and typically results in death by the age of 2.
When to see a doctor
If you or your child has any of the signs and symptoms associated with Gaucher’s disease, make an appointment with your doctor.
Gaucher’s disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher’s genetic mutation for their child to inherit the condition.
People of Eastern or Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher’s disease.
Complications of Glucocerebrosidase deficiency (Gaucher’s disease)
Gaucher’s disease may increase the risk of:
- Growth delays in children
- Gynecological and obstetric problems
- Parkinson’s disease
- Cancers such as myeloma, leukemia and lymphoma
Preparing for your appointment
You’re likely to first bring any symptoms to the attention of your family doctor. He or she might refer you to a doctor who specializes in blood disorders (hematologist) or to a doctor specializing in inherited disorders (geneticist).
What you can do
Before the appointment, you may want to write a list of answers to the following questions:
- Has anyone in your family been diagnosed with Gaucher’s disease?
- Have any children in your extended family died before the age of 2?
- What medications and supplements do you take regularly?
What to expect from your doctor
Your doctor might ask some of the following questions:
- What are the symptoms and when did they begin?
- Is there pain in the abdomen or bones?
- Have you noticed that bruising occurs more easily? Any nosebleeds?
- What’s your family’s heritage?
- Are there any diseases or collection of symptoms that have occurred in several generations in your family?
Tests and diagnosis
During a physical exam, your doctor will press on you or your child’s abdomen to check the size of the spleen and liver. 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’s disease. Genetic analysis can also reveal whether you have the disease.
People diagnosed with Gaucher’s disease typically require periodic tests to track its progression. These may include imaging tests such as:
- Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
- Magnetic resonance imaging (MRI). Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged, and if bone marrow has been affected.
Preconception screening and prenatal testing
You may want to consider genetic screening prior to starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher’s disease. In some cases, doctors may recommend prenatal testing to see if the fetus is at risk of Gaucher’s disease.
Treatments and drugs
While there’s no cure for Gaucher’s 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 may not need treatment.
Many people who have Gaucher’s disease have seen improvements in their symptoms after beginning treatment with:
- Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
- Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher’s disease. Diarrhea and weight loss are common side effects.
- Osteoporosis drugs. These types of medications can help rebuild bone weakened by Gaucher’s disease.
Surgical and other procedures
If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest:
- Bone marrow transplantation. In this procedure, blood-forming cells that have been damaged by Gaucher’s are removed and replaced, which can reverse many of Gaucher’s signs and symptoms. Because this is a high-risk approach, it’s performed less often than is enzyme replacement therapy.
- Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher’s disease. Currently, this procedure is typically reserved as a last resort.
Coping and support
Having any chronic illness can be difficult, but having a rare disease like Gaucher’s may be even harder. Few people know about the disease, and even fewer understand the challenges you face. You may find that talking to someone else who has the disease or has a child with Gaucher’s is helpful.
The National Gaucher Foundation has a mentor program that connects people who have the disease. To find out more, you can visit its website or call 800-504-3189. Additionally, your doctor may know if there are any local support groups in your area.