Gaucher disease

Diagnosis

Your doctor will press on the abdomen of you or your child during a physical examination to measure the size of the liver and spleen. The doctor will compare your child’s height and weight to established growth charts to determine if they have Gaucher disease.

Additionally, he or she might suggest particular lab testing, imaging exams, and genetic counseling.

Lab tests

The enzyme linked to Gaucher disease can be measured in blood samples. Genetic testing can determine if you have the condition.

Imaging Tests

Typically, Gaucher disease patients need serial testing to monitor the disease’s development, such as:

• Dual Energy X-ray Absorptiometry (DXA).This examination measures bone density using low-dose X-rays.
• Magnetic Resonance Imaging (MRI).An MRI uses radio waves and a strong magnetic field to reveal whether the liver or spleen is enlarged as well as whether the bone marrow has been impacted.

Preconception screening and prenatal testing

If either you or your partner is of Ashkenazi Jewish background or if one of you has a family history of Gaucher disease, you might want to think about genetic testing before raising a family. Doctors occasionally advise prenatal testing to determine whether the fetus is at risk for Gaucher disease.

Treatment

While a definitive cure for Gaucher disease remains undiscovered, there are multiple treatments available to effectively handle symptoms, prevent lasting damage, and improve overall well-being. Not everyone necessitates treatment, as some individuals experience only mild symptoms.

Your medical practitioner will likely recommend regular checkups to monitor disease progression and potential complications. Depending on your situation, periodic assessments may be necessary.

Medications

Many persons with Gaucher disease have had symptom improvements after starting treatment with:

• Enzyme replacement therapy. With this method, artificial enzymes are used to replace the deficient ones. These replacement enzymes are normally administered in high quantities every two weeks via an outpatient operation into a vein (intravenously). An allergic or hypersensitive reaction to enzyme therapy does occur occasionally.
• Miglustat. This oral drug seems to prevent the synthesis of the fatty compounds that accumulate in Gaucher disease patients. Weight loss and diarrhea are frequent adverse effects.
• Eliglustat. Additionally, this medication appears to prevent the development of fatty compounds that accumulate in those with the most prevalent form of Gaucher disease. Consequences include weariness, headaches, nausea, and diarrhea are possible.
• Osteoporosis drugs. These medicines can aid in the restoration of bone that has been weakened by Gaucher disease.

Surgery and other procedures

In cases of severe symptoms where less invasive treatments are not suitable, your physician might suggest the following:

• Bone marrow transplant. Many of the signs and symptoms of Gaucher disease can be reversed with this treatment, which involves the removal and replacement of blood-forming cells that have been harmed by the disease. This method is used less frequently than enzyme replacement therapy because it carries a higher risk.
• Spleen removal. The spleen was frequently removed as a treatment for Gaucher disease prior to the development of enzyme replacement therapy. This procedure is usually employed as a final option.