Gaucher Disease

Diagnosis

Diagnosing Gaucher disease involves a combination of physical exams, lab tests, and imaging studies to confirm the condition and assess its effects on organs and tissues. A complete examination typically includes questions about symptoms, family medical history, and a physical assessment.

Physical examination
Your healthcare professional may:

• Apply pressure to the abdomen to check the size and condition of organs such as the liver and spleen

• Measure height and weight in children and review growth charts to track development

• Test movement, coordination, and reflexes

• Examine the skin for signs of bruising or other abnormalities

Lab tests
Blood tests are key in confirming Gaucher disease. These include:

• Testing enzyme levels associated with Gaucher disease

• Performing genetic analysis to detect mutations in the GBA gene linked to the disorder

These are the primary methods for confirming a diagnosis.

Imaging tests
Imaging studies help detect tissue and organ damage caused by Gaucher disease. Common imaging options include:

• MRI or ultrasound scans to measure liver and spleen size

• MRI scans to identify Gaucher cells in tissues

• X-rays to check for bone damage

• Dual X-ray absorptiometry (DEXA) to measure bone density and assess for bone loss

Genetic screening
Genetic screening can detect Gaucher-related mutations in individuals and families.

• Prenatal screening can test for enzyme levels and gene mutations but cannot predict disease severity.

• Carrier testing is available for parents who may carry the Gaucher gene mutation. Genetic counseling is recommended to discuss the potential benefits and limitations of testing.

Treatment

The main goal of treatment for Gaucher disease type 1 is to manage symptoms, prevent organ and tissue damage, and improve quality of life. Ongoing imaging tests and medical evaluations help monitor disease progression and the effectiveness of treatment.

Enzyme replacement therapy (ERT)
ERT replaces the missing or deficient enzyme in Gaucher disease with an artificial version.

• The therapy is administered intravenously every two weeks.

• During each session, a healthcare professional monitors for side effects, which may include rare allergic reactions.

Medicines to reduce fatty substances
These medications decrease the production of the fatty substances that accumulate in Gaucher disease. They are taken daily in pill form and include:

• Miglustat (Opfolda, Yargesa, Zavesca)

• Eliglustat (Cerdelga)

Possible side effects may include:

• Diarrhea

• Belly pain

• Weight loss

• Gas

• Tremors

• Tingling, numbness, or pain in the limbs

Other medicines
Additional treatments may be prescribed to manage bone pain and reduce bone loss.

Surgery
In some cases, surgery may be recommended, such as:

• Splenectomy (removal of the spleen), if there are very low blood platelet counts or severe abdominal pain caused by an enlarged spleen

• Bone marrow transplant, which can treat the disorder but is rarely performed due to significant risks, including serious side effects and potential death

Treatment for types 2 and 3 Gaucher disease

• Type 2: There is no disease-altering treatment. Care focuses on symptom management and comfort.

• Type 3: Enzyme replacement therapy may be used but does not affect brain involvement. In some cases, bone marrow transplants may be considered before neurological symptoms appear.

Early diagnosis and a tailored treatment plan can significantly improve long-term outcomes and help manage the effects of Gaucher disease.