Diagnosis

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.

Lab tests

Blood samples can be checked for levels of the enzyme associated with Gaucher disease. Genetic analysis can reveal whether you have the disease.

Imaging Tests

People diagnosed with Gaucher disease typically require periodic tests to track its progression, including:

  • Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
  • 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 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.

Treatment

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.

Medications

Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:

  • Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have 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 disease. Diarrhea and weight loss are common side effects.
  • Eliglustat (Cerdelga). Approved by the Food and Drug Administration in 2014 for treating the most common form of Gaucher disease, this drug also seems to inhibit the production of fatty substances that build up in people with this this condition.Possible side effects include fatigue, headache, nausea and diarrhea.
  • Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher 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 transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher 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 disease. Now this procedure typically is used as a last resort.

Coping and support

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.

Preparing for your appointment

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).

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 disease?
  • Have any children in your extended family died before the age of 2 years?
  • What medications and supplements do you take regularly?

What to expect from your doctor

Your doctor might ask questions, including:

  • What are the symptoms, and when did they begin?
  • Is there pain in the abdomen or bones?
  • Have you noticed easy bruising or nosebleeds?
  • What's your family's ancestral heritage?
  • Are there diseases or symptoms that have occurred in several generations in your family?