Radiography and other imaging allow doctors to assess the progress of Gaucher disease, including in people who don’t have any symptoms yet. It’s an important tool in guiding treatment decisions.

People with Gaucher disease are born with a genetic mutation because of which the cells are unable to break down certain fatty molecules called lipids. The resulting buildup causes organ damage over time.

Depending on which of the three types of Gaucher disease you have, you may not develop symptoms until adolescence or even adulthood. But advances in prenatal and neonatal screening have made it possible to diagnose many cases of Gaucher disease before symptoms arise.

If you or your child have received a diagnosis of Gaucher disease, your doctors will use a variety of tools to monitor your disease progression and adjust treatments. This may include monitoring your symptoms and physical findings, checking blood and biomarker tests, and performing various types of medical imaging.

So far, research has identified over 400 different gene mutations that have an association with Gaucher disease. But even siblings who share a gene mutation can have different Gaucher disease symptoms, progression, and response to treatment.

Based on genetics alone, it’s difficult to determine your Gaucher disease course and optimize treatments. But diagnosis can occur as early as before birth — years before any signs or symptoms appear.

Medical imaging helps doctors monitor people with Gaucher disease for any early signs, guiding the ideal time to start therapy. Imaging can reveal early signs of reversible organ damage before symptoms ever arise.

If you have Gaucher disease that is symptomatic, imaging plays an important role in determining disease severity and guiding your treatment.

  • X-ray imaging: Doctors can best use X-ray-based tests to view your skeletal system, lungs, and abdominal organs. Specific techniques include:
  • MRI: To avoid radiation exposure, doctors can evaluate many organ systems using MRI, including your brain, heart, abdominal organs, and musculoskeletal system. They can use MRI with or without contrast dyes and can include special scan types like MR spectroscopy or elastrography. But MRI scans take longer and may require sedation in young children.
  • Ultrasound imaging: Ultrasound-based tests, including echocardiography, can help doctors analyze your abdominal organs and heart. They’re especially useful in children, given the lack of both radiation exposure and the need for sedation.
  • Radionuclide scintigraphy: These scans use trace amounts of radioactive isotopes to generate images and may help analyze certain bony complications of Gaucher disease.

Typically, doctors perform imaging of key organs around the time of diagnosis. Some scans may need repeating as often as every 6 to 12 months in children who do not have symptoms. When symptoms arise, or treatment begins, your doctor may create an imaging plan specifically for you, but yearly screening is common.

Before treatment, imaging screens detect the earliest signs of active Gaucher disease, which can appear before you notice any symptoms. This helps doctors choose the optimal time to start therapy.

Once you are on enzyme replacement therapy, doctors use imaging to monitor disease progression and your body’s response to therapy, further guiding treatment.

Imaging allows doctors to detect specific signs that provide insight into how Gaucher disease is progressing.

Liver and spleen

In Gaucher disease, it’s common for the liver and spleen to become enlarged and develop structural changes. Imaging these organs can:

  • determine how much the liver and spleen are enlarged (or track improvements after starting treatment)
  • detect fibrosis (scarring) or cirrhosis (severe scarring)
  • evaluate lesions and nodules that may arise due to Gaucher disease or chronic inflammation


The buildup of lipid waste products in your bone marrow can cause extreme bone pain and weaken the structure of your bones. X-ray, CT, DEXA, or MRI scans of the skeletal system can:


Lung involvement is less common in Gaucher disease. But when symptoms are present, CT scans can reveal:

  • airway wall thickening
  • ground glass opacities, indicating increased lung density
  • and centrilobular nodular opacities, indicating nodules


Cardiac involvement is typical of a rare subtype of Gaucher disease. In these cases, echocardiography and cardiac MRI can reveal:

  • heart and vascular structure
  • heart function
  • valvular calcifications


Neurological symptoms, seizures, and motor deficits are more common in Gaucher diseases type 2 and type 3.

One small 2023 study observed nonspecific findings on brain MRI in 19 participants with Gaucher disease. The researchers also noted a possible link between reduced volume in the left hippocampus and impaired performance on some neuropsychological tests.

Medical imaging can precisely assess the progression of Gaucher disease, particularly in the liver, spleen, and skeletal system.

Screening imaging plays a key role in determining when to start treatment if you have Gaucher disease and don’t yet have symptoms. Imaging also helps doctors monitor your response to therapy, diagnose complications, assess disease progression, and guide further treatment.

If you or your child have received a diagnosis of Gaucher disease, talk with your doctor about the role medical imaging will play in monitoring and treatment decisions.