Health A-Z

Gaucher disease is a rare genetic disorder that affects the body's ability to break down certain types of fat molecules. Here's an overview of its symptoms, treatment options, and diagnosis/testing methods.

1. Enlarged Liver and Spleen: One of the most common symptoms is hepatosplenomegaly, which refers to the enlargement of the liver and spleen.
2. Bone Abnormalities: Gaucher disease can lead to bone pain, fractures, and an increased risk of developing bone disease.
3. Fatigue and Anemia: Patients may experience fatigue and weakness due to anemia (low red blood cell count).
4. Easy Bruising and Bleeding: Anemia can cause easy bruising and an increased tendency to bleed.
5. Delayed Growth: Children with Gaucher disease may experience delayed growth and puberty.
6. Neurological Complications: In some cases, Gaucher disease can lead to neurological complications such as seizures or movement disorders.

1. Enzyme Replacement Therapy (ERT): This is the most common treatment for Gaucher disease. It involves intravenous infusion of a synthetic form of the deficient enzyme, which helps to break down the accumulated fats.
2. Substrate Reduction Therapy (SRT): SRT medications reduce the production of the fat molecules that accumulate in Gaucher disease.
3. Bone Marrow Transplant: In severe cases, a bone marrow transplant may be considered, particularly in younger patients.
4. Symptomatic Treatment: Additional treatments may be prescribed to manage symptoms such as pain, anemia, and bone complications.

1. Blood Tests: Blood tests can measure the levels of glucocerebrosidase enzyme activity. Low levels of this enzyme can indicate Gaucher disease.
2. Genetic Testing: Genetic testing can identify mutations in the GBA gene, which are associated with Gaucher disease.
3. Imaging Tests: X-rays, MRI, or CT scans may be used to evaluate bone abnormalities and the size of the liver and spleen.
4. Bone Marrow Biopsy: In some cases, a bone marrow biopsy may be performed to confirm the diagnosis by analyzing the presence of Gaucher cells.