Diagnosis
A complete exam typically includes questions about symptoms and family medical history. Diagnostic exams may include:
- Applying pressure to the belly to check the size and condition of organs.
- Measurements of height and weight of children and a review of growth charts.
- Tests of movement, coordination and reflexes.
- Examination of skin for signs of bruising.
Lab tests
Blood samples can be used to examine the enzyme associated with Gaucher disease. Genetic analysis can show the presence of a gene change related to the disease. These are the primary tests for confirming a diagnosis.
Imaging tests
Imaging tests look for signs of damage to tissues and organs caused by Gaucher disease. These include:
- MRI scans or ultrasounds to see the size of the spleen and liver.
- MRIs to detect the presence of Gaucher cells in tissues.
- X-rays to assess bone disease.
- Specialized X-ray technology, called dual x-ray absorptiometry, to measure bone density.
Genetic screening
Prenatal screening can test for disease-related enzyme levels and gene mutations. This information has little value in predicting the severity of the disease. Even siblings with the disease can have very different disease outcomes.
Genetic screening tests also are available to parents who may be likely carriers of a Gaucher-related gene mutation. Genetic counseling is recommended to understand the benefits, limitations and risks of genetic testing.
Treatment
Treatment goals for type 1 Gaucher disease are to lessen symptoms, prevent damage to tissues and organs, and improve quality of life. Regularly scheduled imaging tests monitor disease progression and treatment effect.
Enzyme replacement therapy
This treatment provides an artificial enzyme to replace the enzyme that doesn't work correctly in Gaucher disease. The medicine is given through an intravenous (IV) tube with a needle inserted into a blood vessel. The treatment is done every two weeks.
A possible side effect is a rare but serious allergic reaction. The healthcare team monitors for any problems during the treatment.
Medicine to reduce fatty substances
Other medicines limit the production of the Gaucher-related fatty substance. These medicines are taken daily as pills. They include:
- Miglustat (Opfolda, Yargesa, Zavesca)
- Eliglustat (Cerdelga)
Side effects include:
- Diarrhea.
- Belly pain.
- Weight loss.
- Gas.
- Tremors.
- Tingling, numbness or pain in limbs.
Other medicines
Other medicines are used to treat bone pain and limit the amount of bone loss.
Surgery
Removal of the spleen, called a splenectomy, may be used in some situations:
- Very low blood platelets because of platelets being trapped in the spleen.
- Severe belly pain or other issues related to an enlarged spleen.
Bone marrow transplants may treat the disorder but are rarely used because of risks of severe side effects and death.
Treatment of types 2 and 3
There is no disease-altering treatment for type 2 Gaucher disease. Treatment is focused on supportive care and pain management.
Type 3 Gaucher disease may be treated with enzyme replacement therapy. This treatment doesn't affect disease progression in the brain.
Bone marrow transplants may be used for people with type 3 Gaucher disease before there are any signs or symptoms of brain disease.
Preparing for your appointment
You'll likely start by seeing your primary healthcare professional. You will likely see other specialists such as doctors who specialize in blood disorders, called hematologists, or specialists in inherited disorders, called geneticists.
What you can do
Before your appointment, make a list that includes:
- Symptoms, including any that seem unrelated to the reason for the appointment.
- Key personal information, including major stresses, recent life changes and family medical history.
- All medicines, vitamins or other supplements you take, including the doses and reasons for taking them.
- Questions to ask your healthcare professional.
Take a family member or friend along, if possible, to help you remember the information you're given. Some basic questions to ask your healthcare professional include:
- What tests will you order?
- What specialists should I see?
- What illnesses need to be considered or ruled out based on the symptoms?
- What can be done to manage symptoms before you have made a diagnosis?
- Are there brochures or other printed material I can have? What websites do you recommend?
What to expect from your doctor
Be prepared to answer the following questions about your symptoms or your child's symptoms:
- When did the symptoms begin?
- Have the symptoms been constant or do they happen off and on?
- How severe are the symptoms?
- Is there pain in bones or the belly?
- Have you noticed easy bruising or nosebleeds?
- What's your family's ancestral heritage?
- Is there a history of inherited illnesses in your family?
Coping and support
Individuals and families affected by Gaucher disease face challenges in managing care and coping with the stress of a lifelong illness. The National Gaucher Foundation and the Gaucher Community Alliance have resources for community services, support groups and education.